New insights and therapies for the metabolic consequences of Alström syndrome

Current Opinion in Lipidology

Volumn 20, Issue 4, 2009, Pages 315-320

  Paisey, Richard Bayley ^a  

^a TORBAY HOSPITAL   (United Kingdom)

Author keywords

Alstr m syndrome; Dyslipidaemia; Insulin resistance

Indexed keywords

EXENDIN 4; FIBRIC ACID DERIVATIVE; GLITAZONE DERIVATIVE; GLUCOSE; HEPARIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INCRETIN; INSULIN; INSULIN SENSITIZING AGENT; METFORMIN; NICOTINIC ACID; NICOTINIC ACID DERIVATIVE; ORAL ANTIDIABETIC AGENT;

ALSTROM SYNDROME; BODY FAT DISTRIBUTION; DYSLIPIDEMIA; FLUSHING; GENOTYPE; GLUCOSE METABOLISM; HEART DISEASE; HUMAN; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; KIDNEY DISEASE; LIVER DISEASE; LOW CARBOHYDRATE DIET; NAUSEA; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIDE EFFECT;

DIABETES MELLITUS, TYPE 2; HUMANS; HYPERLIPIDEMIAS; INSULIN RESISTANCE; LIPID METABOLISM; SYNDROME;

EID: 68449090137     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOL.0b013e32832dd51a     Document Type: Review

References (36)

1. Alströ m C, Hallgren B, Nilsson L, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurnce-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat Neurol Scand 1959; 34 (Suppl 129):1-35.
2. Paisey RB, Carey CM, Bower L, et al. Hypertriglyceridaemia in Alstrom syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf) 2004; 60:228-231.
3. Marshall JD, Bronson RT, Collin GB, et al. New Alströ m syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005; 165:675-683.
4. Marshall JD, Beck S, Maffei P, Naggert JK. Alstrom Syndrome. Eur J Hum Genet 2007; 15:1193-1202.
5. Smith JC, McDonnell B, Retallick C, et al. Is arterial stiffening in Alströ m syndrome linked to the development of cardiomyopathy? Eur J Clin Invest 2007; 37:99-105.
6. Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002; 31:79-83.
7. Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002; 31:74-78.
8. Hearn T, Spalluto C, Phillips VJ, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 2005; 54:1581-1587.
9. Minton JAL, Owen KR, Ricketts CJ, et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alströ m syndrome. J Clin Endocrinol Metab 2006; 91:3110-3116.
10. Kantarceken B, Cetinkaya A, Inanc Tolun F. Metabolic conditions of fatty liver in nondiabetic obese women. J Endocrinol Invest 2007; 30:672-676.
11. Tsimihodimos V, Dounousi E, Siamopoulos KC. Dyslipidemia in chronic kidney disease: an approach to pathogenesis and treatment. Am J Nephrol 2008; 28:958-973.
12. Semple RK, Sleigh A, Murgatroyd PR. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest 2009; 119:315-322.
13. Bottaro EG, Caravello O, Scapellato PG, et al. Rosuvastatin for the treatment of dyslipidemia in HIV-infected patients receiving highly active antiretroviral therapy. Preliminary experience. Enferm Infecc Microbiol Clin 2008; 26:325-329. [article in Spanish].
14. Paisey RB, Hodge D, Williams K. Body fat distribution, serum glucose lipid and insulin responses to meals in Alströ m syndrome. J Hum Nutr Diet 2008; 3:268-274.
15. Hubacek JA, Wang WW, Skodová Z, et al. APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels. Clin Chem Lab Med 2008; 46:773-777.
16. Sousa MO, Alía P, Pintó X, et al. Interaction between APOA5-1131T>C and APOE polymorphisms and their association with severe hypertriglyceridemia. Clin Chim Acta 2008; 395 (1-2):68-71. [Epub 2008 May].
17. Calandra S, Priore Oliva C, Tarugi P, Bertolini S. APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. Curr Opin Lipidol 2006; 17:122-127.
18. Dorfmeister B, Zeng WW, Dichlberger A, et al. Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding. Arterioscler Thromb Vasc Biol 2008; (10):1866-1871 [Epub 2008 Jul 17].
19. Nielsen JV, Joensson EA. Low-carbohydrate diet in type 2 diabetes: stable improvement of bodyweight and glycemic control during 44 months follow-up. Nutr Metab (Lond) 2008; 5:14.
20. Daly ME, Piper J, Paisey R, et al. Safety of carbohydrate restriction in obese type 2 diabetes patients. Diabetic Med 2006; 23 (Suppl 2):31-318.
21. Dyson PA. A review of low and reduced carbohydrate diets and weight loss in type 2 diabetes. J Hum Nutr Diet 2008; 21:530-538.
22. Sinha SK. Effect of metformin and rosiglitazone in a prepubertal boy with Alströ m syndrome. J Pediatr Endocrinolog Metab 2007; 20:1045-1052.
23. Drucker DJ, Buse JB, Taylor K, et al., DURATION-1 Study Group. Exenatide once weekly versus twice daily for the treatment of type 2 diabetes: a randomised, open-label, noninferiority study. Lancet 2008; 372:1240-1250.
24. Holst JJ, Vilsbøll T, Deacon CF. The incretin system and its role in type 2 diabetes mellitus. Mol Cell Endocrinol 2009; 297:127-136.
25. Paisey RB, Hodge D, Bower L. Effects of 6 months treatment with exenatide on body weight and glycosylated haemoglobin in 9 Alstrom subjects (Abstract 288). 44th Annual meeting EASD, Sept 2008.
26. Jabbar MA, Zuhri-Yafi MI, Larrea J. Insulin therapy for a non-diabetic patient with severe hypertriglyceridemia. J Am Coll of Nutr 1998; 17:458-461.
27. Paisey RB, Hodge D, Bower L. Abstract spring meeting. Diabetes, UK; 2009.
28. Kamanna VS, Ganji SH, Kashyap ML. Niacin: an old drug rejuvenated. Curr Atheroscler Rep 2009; 1:45-51.
29. Kamanna VS, Vo A, Kashyap ML. Nicotinic acid: recent developments. Curr Opin Cardiol 2008; 23:393-398.
30. Paisey RB, Paisey RM, Thomson MP, et al. Protection from clinical peripheral sensory neuropathy in Alströ m syndrome in contrast to early-onset type2 diabetes. Diabetes Care 2009; 32:462-464.
31. Loudon MA, Bellenger N, Paisey RB, Carey CM. Cardiac myocardial resonance imaging in adults with Alströ m syndrome. Orphanet J Rare Dis (Accepted subject to revision).
32. Goerler H, Warnecke g, Winterhalter M, et al. Heart lung transplantation in a 14 year old boy with Alströ m syndrome. J Heart Lung Transplant 2007; 11:1217-1218.
33. Khoo EY, Risley J, Zaitoon AM, et al. Alströ m syndrome in cecal volvulus in 2 siblings. Accepted for publication. Am J Med Sci 2009; 337:383-385.
34. Malm E, Ponjavic V, Nishina PM, et al. Full-field electroretinography and marked variability in clinical phenotype of Alströ m syndrome. Acta Ophthalmol 2008; 126:51-57.
35. Romano S, Milan G, Veronese C, et al. Regulation of Alströ m syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity. Int J Mol Med 2008; 6:731-736.
36. Patel S, Minton JA, Weedon MN, et al. Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia 2006; 49:1209-1213.