Pathogenesis of the metabolic syndrome: Insights from monogenic disorders

Mediators of Inflammation

Volumn 2013, Issue , 2013, Pages

  Murphy, Rinki ^a   Carroll, Richard W ^b,c   Krebs, Jeremy D ^b,c  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b WELLINGTON HOSPITAL   (New Zealand)

^c UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; CORTICOTROPIN; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; LEPTIN; LEPTIN RECEPTOR; MELANOCORTIN 4 RECEPTOR; PROTEIN KINASE B BETA;

ACANTHOSIS NIGRICANS; CALORIC INTAKE; DIABETES MELLITUS; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSLIPIDEMIA; FATTY LIVER; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERANDROGENISM; HYPERGLYCEMIA; HYPERINSULINEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RESISTANCE; LIPODYSTROPHY; METABOLIC SYNDROME X; MOLECULAR PATHOLOGY; MONOGENIC DISORDER; MONOGENIC NONSYNDROMIC OBESITY; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OBESITY; PANCREAS ISLET BETA CELL; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; BIOLOGICAL MODEL; METABOLISM; PATHOLOGY; PHYSIOLOGY;

DIABETES MELLITUS, TYPE 2; HUMANS; INSULIN RESISTANCE; METABOLIC SYNDROME X; MODELS, BIOLOGICAL; OBESITY;

EID: 84878719528     PISSN: 09629351     EISSN: 14661861     Source Type: Journal    
DOI: 10.1155/2013/920214     Document Type: Review

References (135)

1. Montague C. T., Farooqi I. S., Whitehead J. P., Soos M. A., Rau H., Wareham N. J., Sewter C. P., Digby J. E., Mohammed S. N., Hurst J. A., Cheetham C. H., Earley A. R., Barnett A. H., Prins J. B., O'Rahilly S., Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997 387 6636 903 908 2-s2.0-0030878110 10.1038/43185 (Pubitemid 27289591)
2. Clément K., Vaisse C., Lahlou N., Cabrol S., Pelloux V., Cassuto D., Gourmelen M., Dina C., Chambaz J., Lacorte J. M., Basdevant A., Bougnères P., Lebouc Y., Froguel P., Guy-Grand B., A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998 392 6674 398 401 2-s2.0-0344450708 10.1038/32911 (Pubitemid 28168737)
3. Krude H., Grüters A., Implications of proopiomelanocortin (POMC) mutations in humans: the POMC deficiency syndrome. Trends in Endocrinology and Metabolism 2000 11 1 15 22 2-s2.0-0342657747 10.1016/S1043-2760(99)00213-1 (Pubitemid 30395455)
4. Xu B., Goulding E. H., Zang K., Cepoi D., Cone R. D., Jones K. R., Tecott L. H., Reichardt L. F., Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor. Nature Neuroscience 2003 6 7 736 742 2-s2.0-0038392755 10.1038/nn1073 (Pubitemid 36792889)
5. Gray J., Yeo G. S. H., Cox J. J., Morton J., Adlam A. L. R., Keogh J. M., Yanovski J. A., El Gharbawy A., Han J. C., Tung Y. C. L., Hodges J. R., Raymond F. L., O'Rahilly S., Farooqi I. S., Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes 2006 55 12 3366 3371 2-s2.0-33845530762 10.2337/db06-0550 (Pubitemid 44923594)
6. Yeo G. S. H., Hung C. C. C., Rochford J., Keogh J., Gray J., Sivaramakrishnan S., O'Rahilly S., Farooqi I. S., A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nature Neuroscience 2004 7 11 1187 1189 2-s2.0-7044262828 10.1038/nn1336 (Pubitemid 39426236)
7. Speliotes E. K., Willer C. J., Berndt S. I., Monda K. L., Thorleifsson G., Jackson A. U., Allen H. L., Lindgren C. M., Luan J., Mägi R., Randall J. C., Vedantam S., Winkler T. W., Qi L., Workalemahu T., Heid I., Steinthorsdottir V., Stringham H., Weedon M. N., Wheeler E., Wood A. R., Ferreira T., Weyant R. J., Segrè A. V., Eestrada K., Liang L., Nemesh J., Park J. H., Gustafsson S., Kilpeläinen T. O., Yang J., Bouatia-Naji N., Eesko T., Feitosa M. F., Kutalik Z., Mangino M., Raychaudhuri S., Scherag A., Smith A. V.,et al , Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics 2010 42 11 937 948 2-s2.0-78049337953 10.1038/ng.686
8. Loos R. J., Lindgren C. M., Li S., Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics 2008 40 6 768 775 10.1038/ng.140 (Pubitemid 351748863)
9. Murphy R., Ellard S., Hattersley A. T., Clinical implications of a molecular genetic classification of monogenic β -cell diabetes. Nature Clinical Practice Endocrinology and Metabolism 2008 4 4 200 213 2-s2.0-41149084500 10.1038/ncpendmet0778 (Pubitemid 351430925)
10. Murphy R., Tura A., Clark P. M., Holst J. J., Mari A., Hattersley A. T., Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor. Diabetologia 2009 52 1 154 159 2-s2.0-57249095765 10.1007/s00125-008-1183-9
11. Singh R., Pearson E. R., Clark P. M., Hattersley A. T., The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia 2007 50 3 620 624 2-s2.0-33846826605 10.1007/s00125-006-0541-8 (Pubitemid 46215506)
12. Ashcroft F. M., Rorsman P., Diabetes mellitus and the beta cell: the last ten years. Cell 2012 148 6 1160 1171 10.1016/j.cell.2012.02.010
13. Semple R. K., Savage D. B., Cochran E. K., Gorden P., O'Rahilly S., Genetic syndromes of severe insulin resistance. Endocrine Reviews 2011 32 4 498 514 10.1210/er.2010-0020
14. Accili D., Barbetti F., Cama A., Kadowaki H., Kadowaki T., Imano E., Levy-Toledano R., Taylor S. I., Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans. Journal of Investigative Dermatology 1992 98 6 77S 81S 2-s2.0-0026578917
15. Semple R. K., Sleigh A., Murgatroyd P. R., Adams C. A., Bluck L., Jackson S., Vottero A., Kanabar D., Charlton-Menys V., Durrington P., Soos M. A., Carpenter T. A., Lomas D. J., Cochran E. K., Gorden P., O'Rahilly S., Savage D. B., Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. Journal of Clinical Investigation 2009 119 2 315 322 2-s2.0-61749100743 10.1172/JCI37432
16. Parker V. E., Savage D. B., O'Rahilly S., Semple R. K., Mechanistic insights into insulin resistance in the genetic era. Diabetic Medicine 2011 28 12 1476 1486 10.1111/j.1464-5491.2011.03463.x
17. Zhang Y., Proenca R., Maffei M., Barone M., Leopold L., Friedman J. M., Positional cloning of the mouse obese gene and its human homologue. Nature 1994 372 6505 425 432 2-s2.0-0028139089 10.1038/372425a0 (Pubitemid 24365442)
18. Martin L. J., Mahaney M. C., Almasy L., MacCluer J. W., Blangero J., Jaquish C. E., Comuzzie A. G., Leptin's sexual dimorphism results from genotype by sex interactions mediated by testosterone. Obesity Research 2002 10 1 14 21 2-s2.0-0036364689 (Pubitemid 135686626)
19. Baratta M., Leptin-from a signal of adiposity to a hormonal mediator in peripheral tissues. Medical Science Monitor 2002 8 12 RA282 RA292 2-s2.0-0036963628 (Pubitemid 36119192)
20. Jéquier E., Leptin signaling, adiposity, and energy balance. Annals of the New York Academy of Sciences 2002 967 379 388 2-s2.0-0036293591 (Pubitemid 34721923)
21. Spiegelman B. M., Flier J. S., Adipogenesis and obesity: rounding out the big picture. Cell 1996 87 3 377 389 2-s2.0-0030297919 10.1016/S0092-8674(00) 81359-8 (Pubitemid 26374313)
22. Martos-Moreno G., Chowen J. A., Argente J., Metabolic signals in human puberty: effects of over and undernutrition. Molecular and Cellular Endocrinology 2010 324 1-2 70 81 2-s2.0-77953963360 10.1016/j.mce.2009.12.017
23. Farooqi I. S., Jebb S. A., Langmack G., Lawrence E., Cheetham C. H., Prentice A. M., Hughes I. A., McCamish M. A., O'Rahilly S., Effects of recombinant leptin therapy in a child with congenital leptin deficiency. New England Journal of Medicine 1999 341 12 879 884 2-s2.0-0033575993 10.1056/NEJM199909163411204 (Pubitemid 29427050)
24. Krude H., Biebermann H., Luck W., Horn R., Brabant G., Grüters A., Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nature Genetics 1998 19 2 155 157 2-s2.0-0031838353 10.1038/509 (Pubitemid 28248796)
25. Dubern B., Lubrano-Berthelier C., Mencarelli M., Ersoy B., Frelut M. L., BouglI D., Costes B., Simon C., Tounian P., Vaisse C., Clement K., Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the α -melanocyte stimulating hormone domain. Pediatric Research 2008 63 2 211 216 2-s2.0-38349151344 10.1203/PDR.0b013e31815ed62b
26. Challis B. G., Pritchard L. E., Creemers J. W. M., Delplanque J., Keogh J. M., Luan J., Wareham N. J., Yeo G. S. H., Bhattacharyya S., Froguel P., White A., Sadaf Farooqi I., O'Rahilly S., A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. Human Molecular Genetics 2002 11 17 1997 2004 2-s2.0-0037101841 (Pubitemid 34919274)
27. Farooqi I. S., Keogh J. M., Yeo G. S. H., Lank E. J., Cheetham T., O'Rahilly S., Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. New England Journal of Medicine 2003 348 12 1085 1095 2-s2.0-0037456768 10.1056/NEJMoa022050 (Pubitemid 36337319)
28. Larsen L. H., Echwald S. M., Sørensen T. I. A., Andersen T., Wulff B. S., Pedersen O., Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. Journal of Clinical Endocrinology and Metabolism 2005 90 1 219 224 2-s2.0-12244281827 10.1210/jc.2004-0497 (Pubitemid 40116661)
29. Heymsfield S. B., Greenberg A. S., Fujioka K., Dixon R. M., Kushner R., Hunt T., Lubina J. A., Patane J., Self B., Hunt P., McCamish M., Recombinant leptin for weight loss in obese and lean adults: a randomized, controlled, dose-escalation trial. Journal of the American Medical Association 1999 282 16 1568 1575 2-s2.0-0032747280 10.1001/jama.282.16.1568 (Pubitemid 29504050)
30. O'Rahilly S., Farooqi I. S., Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions. Diabetes 2008 57 11 2905 2910 2-s2.0-58149359144 10.2337/db08-0210
31. Hattersley A. T., Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabetic Medicine 1998 15 1 15 24 (Pubitemid 28113994)
32. Hattersley A., Bruining J., Shield J., Njolstad P., Donaghue K. C., The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes 2009 10 supplement 12 33 42 2-s2.0-70349578557 10.1111/j.1399-5448.2009.00571.x
33. American Diabetes Association, Diagnosis and classification of diabetes mellitus. Diabetes Care 2012 35 supplement 1 S64 S71 10.2337/dc12-s064
34. McCarthy M. I., Hattersley A. T., Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008 57 11 2889 2898 2-s2.0-58149335251 10.2337/db08-0343
35. Gloyn A. L., Phil D., Pearson E. R., Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes. The New England Journal of Medicine 2004 350 18 1838 1849 10.1056/NEJMoa032922 (Pubitemid 38917250)
36. Temple I. K., Gardner R. J., Mackay D. J. G., Barber J. C. K., Robinson D. O., Shield J. P. H., Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000 49 8 1359 1366 2-s2.0-0033860008 (Pubitemid 30624238)
37. Temple I. K., Shield J. P. H., Transient neonatal diabetes, a disorder of imprinting. Journal of Medical Genetics 2002 39 12 872 875 2-s2.0-0036918736 (Pubitemid 36009147)
38. Slingerland A. S., Shields B. M., Flanagan S. E., Bruining G. J., Noordam K., Gach A., Mlynarski W., Malecki M. T., Hattersley A. T., Ellard S., Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia 2009 52 8 1683 1685 2-s2.0-67650658777 10.1007/s00125-009-1416-6
39. Flanagan S. E., Patch A. M., Mackay D. J. G., Edghill E. L., Gloyn A. L., Robinson D., Shield J. P. H., Temple K., Ellard S., Hattersley A. T., Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007 56 7 1930 1937 2-s2.0-34347387276 10.2337/db07-0043 (Pubitemid 47025462)
40. Docherty L. E., Kabwama S., Lehmann A., Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013 56 4 758 762 10.1007/s00125-013-2832-1
41. Kamiya M., Judson H., Okazaki Y., Kusakabe M., Muramatsu M., Takada S., Takagi N., Arima T., Wake N., Kamimura K., Satomura K., Hermann R., Bonthron D. T., Hayashizaki Y., The cell cycle control gene ZAC/PLAGL1 is imprinted-a strong candidate gene for transient neonatal diabetes. Human Molecular Genetics 2000 9 3 453 460 2-s2.0-0034639657 (Pubitemid 30098740)
42. Babenko A. P., Polak M., Cavé H., Busiah K., Czernichow P., Scharfmann R., Bryan J., Aguilar-Bryan L., Vaxillaire M., Froguel P., Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. New England Journal of Medicine 2006 355 5 456 466 2-s2.0-33746778878 10.1056/NEJMoa055068 (Pubitemid 44162273)
43. Edghill E. L., Flanagan S. E., Patch A.-M., Insulin mutation screening in 1, 044 patients with: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008 57 4 1034 1042 10.2337/db07-1405
44. Ashcroft F. M., ATP-sensitive potassium channelopathies: focus on insulin secretion. Journal of Clinical Investigation 2005 115 8 2047 2058 2-s2.0-23644442552 10.1172/JCI25495 (Pubitemid 41134141)
45. Proks P., Antcliff J. F., Lippiat J., Gloyn A. L., Hattersley A. T., Ashcroft F. M., Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proceedings of the National Academy of Sciences of the United States of America 2004 101 50 17539 17544 2-s2.0-10644233000 10.1073/pnas.0404756101 (Pubitemid 39657439)
46. Pearson E. R., Flechtner I., Njølstad P. R., Malecki M. T., Flanagan S. E., Larkin B., Ashcroft F. M., Klimes I., Codner E., Iotova V., Slingerland A. S., Shield J., Robert J. J., Holst J. J., Clark P. M., Ellard S., Søvik O., Polak M., Hattersley A. T., Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. New England Journal of Medicine 2006 355 5 467 477 2-s2.0-33746686369 10.1056/NEJMoa061759 (Pubitemid 44162274)
47. Slingerland A. S., Hurkx W., Noordam K., Flanagan S. E., Jukema J. W., Meiners L. C., Bruining G. J., Hattersley A. T., Hadders-Algra M., Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabetic Medicine 2008 25 3 277 281 2-s2.0-40049100688 10.1111/j.1464-5491.2007.02373.x (Pubitemid 351322710)
48. Slingerland A. S., Nuboer R., Hadders-Algra M., Hattersley A. T., Bruining G. J., Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006 49 11 2559 2563 2-s2.0-33847363327 10.1007/s00125-006-0407-0
49. Hattersley A. T., Ashcroft F. M., Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 2005 54 9 2503 2513 2-s2.0-24144467758 10.2337/diabetes.54.9. 2503 (Pubitemid 41233571)
50. Sellick G. S., Barker K. T., Stolte-Dijkstra I., Fleischmann C., Coleman R. J., Garrett C., Gloyn A. L., Edghill E. L., Hattersley A. T., Wellauer P. K., Goodwin G., Houlston R. S., Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nature Genetics 2004 36 12 1301 1305 2-s2.0-9644255692 10.1038/ng1475 (Pubitemid 39577939)
51. Stoffers D. A., Zinkin N. T., Stanojevic V., Clarke W. L., Habener J. F., Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nature Genetics 1997 15 1 106 110 2-s2.0-0031031571 10.1038/ng0197-106 (Pubitemid 27014961)
52. Senée V., Chelala C., Duchatelet S., Feng D., Blanc H., Cossec J. C., Charon C., Nicolino M., Boileau P., Cavener D. R., Bougnères P., Taha D., Julier C., Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nature Genetics 2006 38 6 682 687 2-s2.0-33745268851 10.1038/ng1802 (Pubitemid 43927311)
53. Spiegel R., Dobbie A., Hartman C., de Vries L., Ellard S., Shalev S. A., Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. American Journal of Medical Genetics A 2011 155 11 2821 2825 10.1002/ajmg.a.34251
54. de Franco E., Shaw-Smith C., Flanagan S. E., GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes 2013 62 3 993 997 10.2337/db12-0885
55. Rubio-Cabezas O., Jensen J. N., Hodgson M. I., Codner E., Ellard S., Serup P., Hattersley A. T., Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes 2011 60 4 1349 1353 2-s2.0-79953219761 10.2337/db10-1008
56. Rubio-Cabezas O., Minton J. A. L., Kantor I., Williams D., Ellard S., Hattersley A. T., Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes 2010 59 9 2326 2331 2-s2.0-77956373682 10.2337/db10-0011
57. Bennett C. L., Christie J., Ramsdell F., Brunkow M. E., Ferguson P. J., Whitesell L., Kelly T. E., Saulsbury F. T., Chance P. F., Ochs H. D., The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genetics 2001 27 1 20 21 2-s2.0-0035167967 10.1038/83713 (Pubitemid 32044513)
58. Delépine M., Nicolino M., Barrett T., Golamaully M., Mark Lathrop G., Julier C., EIF2AK3, encoding translation initiation factor 2- α kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nature Genetics 2000 25 4 406 409 2-s2.0-0034425698 10.1038/78085 (Pubitemid 32983431)
59. Sansbury F. H., Flanagan S. E., Houghton J. A. L., SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia 2012 55 9 2381 2385 10.1007/s00125-012-2595-0
60. Shaw-Smith C., Flanagan S. E., Patch A.-M., Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes 2012 13 4 314 321 10.1111/j.1399-5448.2012.00855.x
61. Slingerland A. S., Hattersley A. T., Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. Journal of Clinical Endocrinology and Metabolism 2006 91 7 2782 2788 2-s2.0-33745778040 10.1210/jc.2006-0201 (Pubitemid 44024651)
62. Matschinsky F. M., Randle P. J., Evolution of the glucokinase glucose sensor paradigm for pancreatic ta cells. Diabetologia 1993 36 11 1215 1217 2-s2.0-0027429578 10.1007/BF00401072 (Pubitemid 23314578)
63. Zelent D., Najafi H., Odili S., Buettger C., Weik-Collins H., Li C., Doliba N., Grimsby J., Matschinsky F. M., Glucokinase and glucose homeostasis: proven concepts and new ideas. Biochemical Society Transactions 2005 33 part 1 306 310 2-s2.0-14644394924 10.1042/BST0330306 (Pubitemid 40313829)
64. Njølstad P. R., Søvik O., Cuesta-Muñoz A., Bjørkhaug L., Massa O., Barbetti F., Undlien D. E., Shiota C., Magnuson M. A., Molven A., Matschinsky F. M., Bell G. I., Neonatal diabetes mellitus due to complete glucokinase deficiency. New England Journal of Medicine 2001 344 21 1588 1592 2-s2.0-0342902204 10.1056/NEJM200105243442104 (Pubitemid 32479911)
65. Njølstad P. R., Sagen J. V., Bjørkhaug L., Odili S., Shehadeh N., Bakry D., Sarici S. U., Alpay F., Molnes J., Molven A., Søvik O., Matschinsky F. M., Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes 2003 52 11 2854 2860 2-s2.0-10744222821 10.2337/diabetes.52.11.2854 (Pubitemid 37339717)
66. Osbak K. K., Colclough K., Saint-Martin C., Beer N. L., Bellanné-Chantelot C., Ellard S., Gloyn A. L., Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Human Mutation 2009 30 11 1512 1526 2-s2.0-70350741368 10.1002/humu.21110
67. Singh R., Pearson E. R., The importance of making a genetic diagnosis of diabetes. Canadian Journal of Diabetes 2006 30 2 183 190 2-s2.0-33748801258 (Pubitemid 44411664)
68. Stride A., Vaxillaire M., Tuomi T., Barbetti F., Njølstad P. R., Hansen T., Costa A., Conget I., Pedersen O., Søvik O., Lorini R., Groop L., Froguel P., Hattersley A. T., The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 2002 45 3 427 435 2-s2.0-0036210337 10.1007/s00125-001-0770-9 (Pubitemid 34267366)
69. Velho G., Blanché H., Vaxillaire M., Bellanné-Chantelot C., Pardini V. C., Timsit J., Passa P., Deschamps I., Robert J. J., Weber I. T., Marotta D., Pilkis S. J., Lipkind G. M., Bell G. I., Froguel P., Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997 40 2 217 224 2-s2.0-8044260804 10.1007/s001250050666 (Pubitemid 27060296)
70. Leahy J. L., Bonner-Weir S., Weir G. C., Minimal chronic hyperglycemia is a critical determinant of impaired insulin secretion after an incomplete pancreatectomy. Journal of Clinical Investigation 1988 81 5 1407 1414 2-s2.0-0023940801
71. Robertson R. P., Harmon J. S., Diabetes, glucose toxicity, and oxidative stress: a case of double jeopardy for the pancreatic islet β cell. Free Radical Biology and Medicine 2006 41 2 177 184 2-s2.0-33745234081 10.1016/j.freeradbiomed.2005.04.030 (Pubitemid 43928495)
72. Martin D., Bellanné-Chantelot C., Deschamps I., Froguel P., Robert J. J., Velho G., Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2). Diabetes Care 2008 31 7 1321 1323 2-s2.0-49649103147 10.2337/dc07-2017
73. Ellard S., Beards F., Allen L. I. S., Shepherd M., Ballantyne E., Harvey R., Hattersley A. T., A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000 43 2 250 253 2-s2.0-0034000635 (Pubitemid 30126833)
74. Colom C., Corcoy R., Maturity onset diabetes of the young and pregnancy. Best Practice & Research. Clinical Endocrinology & Metabolism 2010 24 4 605 615 2-s2.0-79952115063
75. Spyer G., Hattersley A. T., Sykes J. E., Sturley R. H., MacLeod K. M., Influence of maternal and fetal glucokinase mutations in gestational diabetes. American Journal of Obstetrics and Gynecology 2001 185 1 240 241 2-s2.0-0034914347 10.1067/mob.2001.113127 (Pubitemid 32681826)
76. Chakera A. J., Carleton V. L., Ellard S., Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care 2012 35 9 1832 1834 10.2337/dc12-0151
77. Singh R., Pearson E., Avery P. J., McCarthy M. I., Levy J. C., Hitman G. A., Sampson M., Walker M., Hattersley A. T., Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes. Diabetologia 2006 49 8 1876 1880 2-s2.0-33745795972 10.1007/s00125-006-0285-5 (Pubitemid 44025042)
78. Jetton T. L., Liang Y., Pettepher C. C., Zimmerman E. C., Cox F. G., Horvath K., Matschinsky F. M., Magnuson M. A., Analysis of upstream glucokinase promoter activity in transgenic mice and identification of glucokinase in rare neuroendocrine cells in the brain and gut. Journal of Biological Chemistry 1994 269 5 3641 3654 2-s2.0-0028101926 (Pubitemid 24237691)
79. Fajans S. S., Bell G. I., Polonsky K. S., Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New England Journal of Medicine 2001 345 13 971 980 2-s2.0-0035960122 10.1056/NEJMra002168
80. Maestro M. A., Cardalda C., Boj S. F., Luco R. F., Servitja J. M., Ferrer J., Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth. Endocrine Development 2007 12 33 45
81. Shields B. M., Hicks S., Shepherd M. H., Colclough K., Hattersley A. T., Ellard S., Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010 53 12 2504 2508 2-s2.0-78649322855 10.1007/s00125-010-1799-4
82. Bellanné-Chantelot C., Carette C., Riveline J. P., Valéro R., Gautier J. F., Larger E., Reznik Y., Ducluzeau P. H., Sola A., Hartemann-Heurtier A., Lecomte P., Chaillous L., Laloi-Michelin M., Wilhem J. M., Cuny P., Duron F., Guerci B., Jeandidier N., Mosnier-Pudar H., Assayag M., Dubois-Laforgue D., Velho G., Timsit J., The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008 57 2 503 508 2-s2.0-40749151157 10.2337/db07-0859
83. Stride A., Ellard S., Clark P., Shakespeare L., Salzmann M., Shepherd M., Hattersley A. T., β -cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1 α mutation carriers. Diabetes Care 2005 28 7 1751 1756 2-s2.0-21544451980 10.2337/diacare.28.7.1751 (Pubitemid 40923088)
84. Isomaa B., Henricsson M., Lehto M., Forsblom C., Karanko S., Sarelin L., Häggblom M., Groop L., Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998 41 4 467 473 2-s2.0-0031894649 10.1007/s001250050931 (Pubitemid 28157419)
85. Steele A., Hattersley A., Pearson E., Increased all-cause and cardiovascular mortality in MODY due to HNF-1alpha mutations. Diabet Med 2004 21 supplement 2, article 18
86. Pearson E., McEneny J., Young I., Hattersley A., HDL-cholesterol: differentiating between HNF-1alpha MODY and type 2 diabetes. Diabetic Medicine 2003 20 supplement 2, article 15
87. Pearson E. R., Starkey B. J., Powell R. J., Gribble F. M., Clark P. M., Hattersley A. T., Genetic cause of hyperglycaemia and response to treatment in diabetes. The Lancet 2003 362 9392 1275 1281 2-s2.0-0142186278 10.1016/S0140-6736(03)14571-0 (Pubitemid 37324255)
88. Shepherd M., Pearson E. R., Houghton J., Salt G., Ellard S., Hattersley A. T., No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care 2003 26 11 3191 3192 2-s2.0-0242363725 10.2337/diacare.26.11.3191
89. Shepherd M., Shields B., Ellard S., Rubio-Cabezas O., Hattersley A. T., A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabetic Medicine 2009 26 4 437 441 2-s2.0-64249170094 10.1111/j.1464-5491.2009.02690.x
90. Pontoglio M., Prié D., Cheret C., Doyen A., Leroy C., Froguel P., Velho G., Yaniv M., Friedlander G., HNF1 α controls renal glucose reabsorption in mouse and man. The EMBO Reports 2000 1 4 359 365 2-s2.0-0034304925
91. Owen K. R., Thanabalasingham G., James T. J., Karpe F., Farmer A. J., McCarthy M. I., Gloyn A. L., Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care 2010 33 9 1919 1924 2-s2.0-78649810544 10.2337/dc10-0288
92. Besser R. E. J., Shepherd M. H., McDonald T. J., Shields B. M., Knight B. A., Ellard S., Hattersley A. T., Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1- α /hepatocyte nuclear factor 4- α maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 2011 34 2 286 291 2-s2.0-79951709597 10.2337/dc10-1293
93. Pearson E., Steele A. M., Barrett T. G., A Novel Cause of Hyperinsulinemic Hypoglycemia and Increased Birth Weight Is Seen in Patients with HNF-4A but Not HNF-1A Mutations 2006 Orlando, Fla, USA American Diabetes Association. 66th Scientific Sessions, 1585-poster
94. Edghill E. L., Bingham C., Ellard S., Hattersley A. T., Mutations in hepatocyte nuclear factor-1 β and their related phenotypes. Journal of Medical Genetics 2006 43 1 84 90 2-s2.0-30744476739 10.1136/jmg.2005.032854 (Pubitemid 43099997)
95. Iborra F. J., Kimura H., Cook P. R., The functional organization of mitochondrial genomes in human cells. BMC Biology 2004 2, article 9 2-s2.0-3242705680 10.1186/1741-7007-2-9 (Pubitemid 38964083)
96. Murphy R., Turnbull D. M., Walker M., Hattersley A. T., Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabetic Medicine 2008 25 4 383 399 2-s2.0-41749086664 10.1111/j.1464-5491.2008.02359.x (Pubitemid 351490107)
97. Maassen J. A., Janssen G. M. C., 'T Hart L. M., Molecular mechanisms of mitochondrial diabetes (MIDD). Annals of Medicine 2005 37 3 213 221 2-s2.0-20344378241 10.1080/07853890510007188 (Pubitemid 40780439)
98. Oka Y., Katagiri H., Ishihara H., Asano T., Kobayashi T., Kikuchi M., β -cell loss and glucose induced signalling defects in diabetes mellitus caused by mitochondrial tRNA(Leu(UUR)) gene mutation. Diabetic Medicine 1996 13 6 S98 S102 2-s2.0-0029818009 (Pubitemid 26316210)
99. Guillausseau P. J., Dubois-Laforgue D., Massin P., Laloi-Michelin M., Bellanné-Chantelot C., Gin H., Bertin E., Blickle J. F., Bauduceau B., Bouhanick B., Cahen-Varsaux J., Casanova S., Charpentier G., Chedin P., Derrien C., Grimaldi A., Guerci B., Kaloustian E., Lorenzini F., Murat A., Olivier F., Paques M., Paquis-Flucklinger V., Tielmans A., Vincenota M., Vialettesa B., Timsit J., Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). Diabetes and Metabolism 2004 30 2 181 186 2-s2.0-2642536829 (Pubitemid 38715175)
100. Maassen J. A., 'T Hart L. M., van Essen E., Heine R. J., Nijpels G., Jahangir Tafrechi R. S., Raap A. K., Janssen G. M. C., Lemkes H. H. P. J., Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 2004 53 supplement 1 S103 S109 2-s2.0-0842285626 (Pubitemid 38168701)
101. Guillausseau P. J., Massin P., Dubois-LaForgue D., Maternally inherited diabetes and deafness: a multicenter study. Annals of Internal Medicine 2001 134 9 part 1 721 728 (Pubitemid 32402064)
102. Laloi-Michelin M., Meas T., Ambonville C., The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. The Journal of Clinical Endocrinology & Metabolism 2009 94 8 3025 3030 10.1210/jc.2008-2680
103. McCarthy M. I., Genomics, type 2 diabetes, and obesity. New England Journal of Medicine 2010 363 24 2339 2350 2-s2.0-78649842241 10.1056/NEJMra0906948
104. Donohue W. L., Uchida I., Leprechaunism. A euphuism for a rare familial disorder. The Journal of Pediatrics 1954 45 5 505 519 2-s2.0-0001259675
105. Hone J., Accili D., Psiachou H., Alghband-Zadeh J., Mitton S., Wertheimer E., Sinclair L., Taylor S. I., Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism. Human Mutation 1995 6 1 17 22 2-s2.0-0029067312 10.1002/humu.1380060105
106. Musso C., Cochran E., Moran S. A., Skarulis M. C., Arioglu Oral E., Taylor S., Gorden P., Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine 2004 83 4 209 222 2-s2.0-3242714887 10.1097/01.md.0000133625.73570.54 (Pubitemid 38955444)
107. Semple R. K., Cochran E. K., Soos M. A., Burling K. A., Savage D. B., Gorden P., O'Rahilly S., Plasma adiponectin as a marker of insulin receptor dysfunction. Diabetes Care 2008 31 5 977 979 2-s2.0-48649092058 10.2337/dc07-2194
108. Okada T., Liew C. W., Hu J., Insulin receptors in beta-cells are critical for islet compensatory growth response to insulin resistance. Proceedings of the National Academy of Sciences of the United States of America 2007 104 21 8977 8982 10.1073/pnas.0608703104 (Pubitemid 47175422)
109. Cruz P. D. Jr., Hud J. A. Jr., Excess insulin binding to insulin-like growth factor receptors: proposed mechanism for acanthosis nigricans. Journal of Investigative Dermatology 1992 98 supplement 6 82S 85S 2-s2.0-0026520967
110. Poretsky L., Cataldo N. A., Rosenwaks Z., Giudice L. C., The insulin-related ovarian regulatory system in health and disease. Endocrine Reviews 1999 20 4 535 582 2-s2.0-0033304934 (Pubitemid 30647079)
111. George S., Rochford J. J., Wolfrum C., Gray S. L., Schinner S., Wilson J. C., Soos M. A., Murgatroyd P. R., Williams R. M., Acerini C. L., Dunger D. B., Barford D., Umpleby A. M., Wareham N. J., Davies H. A., Schafer A. J., Stoffel M., O'Rahilly S., Barroso I., A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 2004 304 5675 1325 1328 2-s2.0-2542528670 10.1126/science.1096706 (Pubitemid 38697429)
112. Kubota N., Kubota T., Itoh S., Kumagai H., Kozono H., Takamoto I., Mineyama T., Ogata H., Tokuyama K., Ohsugi M., Sasako T., Moroi M., Sugi K.,
113. Garg A., Lipodystrophies. American Journal of Medicine 2000 108 2 143 152 2-s2.0-0033964872 10.1016/S0002-9343(99)00414-3 (Pubitemid 30064425)
114. Agarwal A. K., Arioglu E., de Almeida S., Akkoc N., Taylor S. I., Bowcock A. M., Barnes R. I., Garg A., AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nature Genetics 2002 31 1 21 23 2-s2.0-0036578783 10.1038/ng880
115. Chandalia M., Garg A., Vuitch F., Nizzi F., Clinical case seminar: postmortem findings in congenital generalized lipodystrophy. Journal of Clinical Endocrinology and Metabolism 1995 80 10 3077 3081 2-s2.0-0029391521
116. Agarwal A. K., Garg A., Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends in Endocrinology and Metabolism 2003 14 5 214 221 2-s2.0-0038607416 10.1016/S1043-2760(03)00078-X (Pubitemid 36841479)
117. Szymanski K. M., Binns D., Bartz R., Grishin N. V., Li W. P., Agarwal A. K., Garg A., Anderson R. G. W., Goodman J. M., The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proceedings of the National Academy of Sciences of the United States of America 2007 104 52 20890 20895 2-s2.0-38049184643 10.1073/pnas.0704154104
118. Payne V. A., Grimsey N., Tuthill A., Virtue S., Gray S. L., Nora E. D., Semple R. K., O'Rahilly S., Rochford J. J., The human lipodystrophy gene BSCL2/Seipin may be essential for normal adipocyte differentiation. Diabetes 2008 57 8 2055 2060 2-s2.0-50949112676 10.2337/db08-0184
119. Agarwal A. K., Simha V., Oral E. A., Moran S. A., Gorden P., O'Rahilly S., Zaidi Z., Gurakan F., Arslanian S. A., Klar A., Ricker A., White N. H., Bindl L., Herbst K., Kennel K., Patel S. B., Al-Gazali L., Garg A., Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2003 88 10 4840 4847 2-s2.0-10744220431 10.1210/jc.2003-030855 (Pubitemid 37357534)
120. Hayashi Y. K., Matsuda C., Ogawa M., Goto K., Tominaga K., Mitsuhashi S., Park Y. E., Nonaka I., Hino-Fukuyo N., Haginoya K., Sugano H., Nishino I., Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. Journal of Clinical Investigation 2009 119 9 2623 2633 2-s2.0-70349195987 10.1172/JCI38660
121. Rajab A., Straub V., McCann L. J., Seelow D., Varon R., Barresi R., Schulze A., Lucke B., Lützkendorf S., Karbasiyan M., Bachmann S., Spuler S., Schuelke M., Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genetics 2010 6 3 2-s2.0-77950431859 10.1371/journal.pgen.1000874 e1000874
122. Kim C. A., Delépine M., Boutet E., El Mourabit H., Le Lay S., Meier M., Nemani M., Bridel E., Leite C. C., Bertola D. R., Semple R. K., O'Rahilly S., Dugail I., Capeau J., Lathrop M., Magré J., Association of a homozygous nonsense caveolin-1 mutation with berardinelli-seip congenital lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2008 93 4 1129 1134 2-s2.0-41549146084 10.1210/jc.2007-1328 (Pubitemid 351540679)
123. Garg A., Agarwal A. K., Caveolin-1: a new locus for human lipodystrophy. Journal of Clinical Endocrinology and Metabolism 2008 93 4 1183 1185 2-s2.0-42049103017 10.1210/jc.2008-0426 (Pubitemid 351519708)
124. Garg A., Clinical review#: lipodystrophies: genetic and acquired body fat disorders. The Journal of Clinical Endocrinology & Metabolism 2011 96 11 3313 3325
125. Shackleton S., Lloyd D. J., Jackson S. N. J., Evans R., Niermeijer M. F., Singh B. M., Schmidt H., Brabant G., Kumar S., Durrington P. N., Gregory S., O'Rahilly S., Trembath R. C., LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genetics 2000 24 2 153 156 2-s2.0-0033951216 10.1038/72807 (Pubitemid 30094715)
126. Rankin J., Ellard S., The laminopathies: a clinical review. Clinical Genetics 2006 70 4 261 274 2-s2.0-33748296316 10.1111/j.1399-0004.2006.00677.x (Pubitemid 44323389)
127. Hegele R. A., Cao H., Frankowski C., Mathews S. T., Leff T., PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 2002 51 12 3586 3590 2-s2.0-0036894397 (Pubitemid 35403468)
128. Rubio-Cabezas O., Puri V., Murano I., Saudek V., Semple R. K., Dash S., Hyden C. S. S., Bottomley W., Vigouroux C., Magré J., Raymond-Barker P., Murgatroyd P. R., Chawla A., Skepper J. N., Chatterjee V. K., Suliman S., Consortium L. S., Patch A. M., Agarwal A. K., Garg A., Barroso I., Cinti S., Czech M. P., Argente J., O'Rahilly S., Savage D. B., Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine 2009 1 5 280 287 2-s2.0-70450220107 10.1002/emmm.200900037
129. Gandotra S., Le Dour C., Bottomley W., Cervera P., Giral P., Reznik Y., Charpentier G., Auclair M., Delépine M., Barroso I., Semple R. K., Lathrop M., Lascols O., Capeau J., O'Rahilly S., Magré J., Savage D. B., Vigouroux C., Perilipin deficiency and autosomal dominant partial lipodystrophy. The New England Journal of Medicine 2011 364 8 740 748 2-s2.0-79952000272 10.1056/NEJMoa1007487
130. Guettier J. M., Park J. Y., Cochran E. K., Poitou C., Basdevant A., Meier M., Clément K., Magré J., Gorden P., Leptin therapy for partial lipodystrophy linked to a PPAR- γ mutation. Clinical Endocrinology 2008 68 4 547 554 2-s2.0-40749092411 10.1111/j.1365-2265.2007.03095.x (Pubitemid 351388716)
131. Chong A. Y., Lupsa B. C., Cochran E. K., Gorden P., Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 2010 53 1 27 35 2-s2.0-72449185147 10.1007/s00125-009-1502-9
132. Danforth E. Jr., Failure of adipocyte differentiation causes type II diabetes mellitus? Nature Genetics 2000 26 1, article 13 2-s2.0-0033817811
133. Virtue S., Vidal-Puig A., Adipose tissue expandability, lipotoxicity and the metabolic syndrome-an allostatic perspective. Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids 2010 1801 3 338 349 2-s2.0-76049099665 10.1016/j.bbalip.2009.12.006
134. Farooqi I. S., Genetic aspects of severe childhood obesity. Pediatric Endocrinology Reviews 2006 3 supplement 4 528 536 2-s2.0-33846515775 (Pubitemid 46166397)
135. Willer C. J., Speliotes E. K., Loos R. J. F., Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics 2009 41 1 25 34 10.1038/ng.287