LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 4, 2010, Pages 1634-1643

  Boschmann, Michael ^a   Engeli, Stefan ^b   Moro, Cedric ^c   Luedtke, Angelika ^d   Adams, Frauke ^a   Gorzelniak, Kerstin ^a   Rahn, Gabriele ^a   Mähler, Anja ^a   Dobberstein, Kerstin ^a   Krüger, Antje ^a   Schmidt, Saskia ^a   Spuler, Simone ^a   Luft, Friedrich C ^a   Smith, Steven R ^c   Schmidt, Hartmut H J ^e   Jordan, Jens ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c PENNINGTON BIOMEDICAL RESEARCH CENTER   (United States)

^d Columbia University ^*  (United States)

^e UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AEROBIC EXERCISE; ARTICLE; CALORIMETRY; CARBOHYDRATE METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FAMILIAL PARTIAL LIPODYSTROPHY; FATTY ACID OXIDATION; FEMALE; GENE; GENE MUTATION; GLUCOSE TRANSPORT; GLYCOLYSIS; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INSULIN RESISTANCE; KETOGENESIS; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPID METABOLISM; LIPID OXIDATION; LMNA GENE; MALE; MICROARRAY ANALYSIS; MICRODIALYSIS; MUSCLE BIOPSY; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE; BIOSYNTHESIS; BLOOD; CELL CULTURE; DNA MICROARRAY; ENERGY METABOLISM; GENETICS; GLUCOSE BLOOD LEVEL; METABOLISM; MIDDLE AGED; MUTATION; OXIDATION REDUCTION REACTION; PHENOTYPE; PHYSIOLOGY;

ACYLCARNITINE; CARNITINE; DRUG DERIVATIVE; GLYCOGEN; INSULIN; LAMIN A; LMNA PROTEIN, HUMAN;

ADULT; BLOOD GLUCOSE; CARNITINE; CELLS, CULTURED; ENERGY METABOLISM; FEMALE; GLYCOGEN; HUMANS; INSULIN; INSULIN RESISTANCE; LAMIN TYPE A; LIPID METABOLISM; LIPODYSTROPHY, FAMILIAL PARTIAL; MALE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDATION-REDUCTION; PHENOTYPE;

EID: 77951643226     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1293     Document Type: Article

References (39)

1. Cao H, Hegele RA 2000 Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109-112 (Pubitemid 30145295)
2. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 66:1192-1198
3. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24:153-156
4. Hegele RA, Cao H, Anderson CM, Hramiak IM 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab 85:3431-3435
5. Gruenbaum Y, Margalit A,Goldman RD, Shumaker DK, Wilson KL 2005 The nuclear lamina comes of age. Nat Rev Mol Cell Biol 6:21-31
6. Aebi U, Cohn J, Buhle L, Gerace L 1986 The nuclear lamina is a meshwork of intermediate-type filaments. Nature 323:560-564 (Pubitemid 16025383)
7. Maraldi NM, Lattanzi G 2005 Linkage of lamins to fidelity of gene transcription. Crit Rev Eukaryot Gene Expr 15:277-294
8. Garg A, Peshock RM, Fleckenstein JL 1999 Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 84:170-174
9. Haque WA, Vuitch F, Garg A 2002 Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. Diabet Med 19: 1022-1025
10. Lüdtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH 2005 Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. Am J Gastroenterol 100:2218-2224
11. Spuler S, Kalbhenn T, Zabojszcza J, van Landeghem FK, Ludtke A, Wenzel K, Koehnlein M, Schuelke M, Lüdemann L, Schmidt HH 2007 Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Neurology 68:677-683
12. Spuler S, Geier C, Osterziel KJ, Gutberlet M, Genschel J, Lehmann TN, Zinn-Justin S, Gilquin B, Schmidt H 2005 A new LMNA mutation causing limb girdle muscular dystrophy 1B. J Neurol 252: 621-623 (Pubitemid 40768187)
13. Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab 92:4835-4844
14. Jordan J, Tank J, Stoffels M, Franke G, Christensen NJ, Luft FC, Boschmann M 2001 Interaction between β-adrenergic receptor stimulation and nitric oxide release on tissue perfusion and metabolism. J Clin Endocrinol Metab 86:2803-2810
15. Boschmann M, Engeli S, Adams F, Gorzelniak K, Franke G, Klaua S, Kreuzberg U, Luedtke S, Kettritz R, Sharma AM, Luft FC, Jordan J 2005 Adipose tissue metabolism and CD11b expression on monocytes in obese hypertensives. Hypertension 46:130-136
16. Hickner RC, Ekelund U, Mellander S, Ungerstedt U, Henriksson J 1995 Muscle blood flow in cats: comparison of microdialysis ethanol technique with direct measurement. J Appl Physiol 79: 638-647
17. Hickner RC, Bone D, Ungerstedt U, Jorfeldt L, Henriksson J 1994 Muscle blood flow during intermittent exercise: comparison of the microdialysis ethanol technique and 133Xe clearance. Clin Sci (Lond) 86:15-25 (Pubitemid 24034703)
18. Ståhle L, Segersvärd S, Ungerstedt U 1991 A comparison between three methods for estimation of extracellular concentrations of exogenous and endogenous compounds by microdialysis. J Pharmacol Methods 25:41-52
19. Koves TR, Ussher JR, Noland RC, Slentz D, Mosedale M, Ilkayeva O, Bain J, Stevens R, Dyck JR, Newgard CB, Lopaschuk GD, Muoio DM 2008 Mitochondrial overload and incomplete fatty acid oxidation contribute to skeletal muscle insulin resistance. Cell Metab 7:45-56
20. Bergstrom J 1975 Percutaneous needle biopsy of skeletal muscle in physiological and clinical research. Scand J Clin Lab Invest 35:609-616
21. Ukropcova B, McNeil M, Sereda O, de Jonge L, Xie H, Bray GA, Smith SR 2005 Dynamic changes in fat oxidation in human primary myocytes mirror metabolic characteristics of the donor. J Clin Invest 115:1934-1941
22. Hulver MW, Berggren JR, Carper MJ, Miyazaki M, Ntambi JM, Hoffman EP, Thyfault JP, Stevens R, Dohm GL, Houmard JA, Muoio DM 2005 Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans. Cell Metab 2:251-261
23. Sparks LM, Xie H, Koza RA, Mynatt R, Hulver MW, Bray GA, Smith SR 2005 A high-fat diet coordinately downregulates genes required for mitochondrial oxidative phosphorylation in skeletal muscle. Diabetes 54:1926-1933
24. Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, Diemer K, Muruganujan A, Narechania A 2003 PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 13:2129-2141
25. Ramsay RR 2000 The carnitine acyltransferases: modulators of acyl-CoA-dependent reactions. Biochem Soc Trans 28:182-186
26. Arner P, Liljeqvist L, Ostman J 1976 Metabolism of mono- and diacylglycerols in subcutaneous adipose tissue of obese and normal-weight subjects. Acta Med Scand 200:187-194
27. Boschmann M, Jordan J, Adams F, Christensen NJ, Tank J, Franke G, Stoffels M, Sharma AM, Luft FC, Klaus S 2003 Tissue-specific response to interstitial angiotensin II in humans. Hypertension 41:37-41
28. Janke J, Engeli S, Boschmann M, Adams F, Böhnke J, Luft FC, Sharma AM, Jordan J 2006 Retinol-binding protein 4 in human obesity. Diabetes 55:2805-2810
29. Naetar N, Foisner R 2009 Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis. Cell Cycle 8:1488-1493
30. Luzi L, Perseghin G, Tambussi G, Meneghini E, Scifo P, Pagliato E, Del Maschio A, Testolin G, Lazzarin A 2003 Intramyocellular lipid accumulation and reduced whole body lipid oxidation in HIV lipodystrophy. Am J Physiol Endocrinol Metab 284:E274-E280
31. Torriani M, Thomas BJ, Barlow RB, Librizzi J, Dolan S, Grinspoon S 2006 Increased intramyocellular lipid accumulation in HIV-infected women with fat redistribution. J Appl Physiol 100:609-614
32. Le Marchand-Brustel Y, Gual P, Grémeaux T, Gonzalez T, Barrès R, Tanti JF 2003 Fatty acid-induced insulin resistance: role of insulin receptor substrate 1 serine phosphorylation in the retroregulation of insulin signalling. Biochem Soc Trans 31:1152-1156 (Pubitemid 38030928)
33. Randle PJ 1998 Regulatory interactions between lipids and carbohydrates: the glucose fatty acid cycle after 35 years. Diabetes Metab Rev 14:263-283
34. Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI 2004 Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes. N Engl J Med 350:664-671
35. Kelley DE, He J, Menshikova EV, Ritov VB 2002 Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes. Diabetes 51:2944-2950
36. Ritov VB, Menshikova EV, He J, Ferrell RE, Goodpaster BH, Kelley DE2005 Deficiency of subsarcolemmal mitochondria in obesity and type 2 diabetes. Diabetes 54:8-14
37. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC 2003 PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 34:267-273
38. Patti ME, Butte AJ, Crunkhorn S, Cusi K, Berria R, Kashyap S, Miyazaki Y, Kohane I, Costello M, Saccone R, Landaker EJ, Goldfine AB, Mun E, DeFronzo R, Finlayson J, Kahn CR, Mandarino LJ 2003 Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1and NRF1. Proc Natl Acad Sci USA 100:8466-8471
39. Liu L, Shi X, Choi CS, Shulman GI, Klaus K, Nair KS, Schwartz GJ, Zhang Y, Goldberg IJ, Yu YH 2009 Paradoxical coupling of triglyceride synthesis and fatty acid oxidation in skeletal muscle overexpressing DGAT1. Diabetes 58:2516-2524