Lessons that can be learned from patients with diabetogenic mutations in mitochondrial DNA: Implications for common type 2 diabetes

Current Opinion in Clinical Nutrition and Metabolic Care

Volumn 10, Issue 6, 2007, Pages 693-697

  Maassen, Johannes A ^a   'T Hart, Leen M ^a   Ouwens, D Margriet ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Antiretroviral therapy; Diabetes mellitus; Fatty acids; Highly active; Mitochondria; Type 2

Indexed keywords

ADENOSINE DIPHOSPHATE; FATTY ACID; MITOCHONDRIAL DNA; NUCLEOSIDE DERIVATIVE; TRIACYLGLYCEROL;

ADIPOSE TISSUE; BODY FAT DISTRIBUTION; CELL ACTIVITY; DIABETOGENESIS; DISEASE COURSE; DISEASE MARKER; FATTY ACID OXIDATION; HIGHLY ACTIVE ANTIRETROVIRAL THERAPY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INSULIN RELEASE; INSULIN RESISTANCE; LIPID METABOLISM; METABOLIC DISORDER; METABOLIC SYNDROME X; MUSCLE TISSUE; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PANCREAS; PHYSICAL ACTIVITY; REVIEW; RISK FACTOR;

ADIPOCYTES; ADIPOSE TISSUE; BODY COMPOSITION; DIABETES MELLITUS, TYPE 2; DNA, MITOCHONDRIAL; ENERGY METABOLISM; EXERCISE; HUMANS; INSULIN RESISTANCE; LIPID METABOLISM; MITOCHONDRIA, MUSCLE; MUTATION; OXIDATION-REDUCTION;

HUMAN IMMUNODEFICIENCY VIRUS;

EID: 37349046294     PISSN: 13631950     EISSN: 15353885     Source Type: Journal    
DOI: 10.1097/MCO.0b013e3282f0b774     Document Type: Review

References (47)

1. Forner F, Foster LJ, Campanaro S, et al. Quantitative proteomic comparison of rat mitochondria from muscle, heart, and liver. Mol Cell Proteomics 2006; 5:608-619.
2. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283:1482-1488.
3. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61:1175-1212.
4. Maassen JA, Janssen GM, 't Hart LM. Molecular mechanisms of mitochondrial diabetes (MIDD). Ann Med 2005; 37:213-221.
5. Van den Ouweland JM, Lemkes HH, Ruitenbeek W, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1:368-371.
6. Maassen JA, 'T Hart LM, Van Essen E, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 2004; 53 (Suppl 1):S103-S109.
7. Guillausseau PJ, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 2001; 134:721-728.
8. Suzuki S, Oka Y, Kadowaki T, et al. Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications. Diabetes Res Clin Pract 2003; 59:207-217.
9. 'T Hart LM, Hansen T, Rietveld I, et al. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. Diabetes 2005; 54:1892-1895.
10. Coenen MJ, Antonicka H, Ugalde C, et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 2004; 351:2080-2086.
11. Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39:534-539. Illustrates that mutations in different mt tRNA synthetases have a different clinical outcome, see also ref [9].
12. Takeda S, Ohama E, Ikuta F. Involvement of extraocular muscle in mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 1990; 80:118-122.
13. Suzuki Y, Nishimaki K, Taniyama M, et al. Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNA(Leu(UUR)) mutation. Diabetes Res Clin Pract 2004; 63:225-229.
14. Capeau J, Magre J, Lascols O, et al. Diseases of adipose tissue: genetic and acquired lipodystrophies. Biochem Soc Trans 2005; 33:1073-1077.
15. Van der Valk M, Casula M, Weverlingz GJ, et al. Prevalence of lipoatrophy and mitochondrial DNA content of blood and subcutaneous fat in HIV-1-infected patients randomly allocated to zidovudine- or stavudine-based therapy. Antivir Ther 2004; 9:385-393.
16. Perseghin G, Petersen K, Shulman GI. Cellular mechanism of insulin resistance: potential links with inflammation. Int J Obes Relat Metab Disord 2003; 27 (Suppl 3):S6-S11.
17. Kim JK. Fat uses a TOLL-road to connect inflammation and diabetes. Cell Metab 2006; 4:417-419.
18. Hotamisligil GS. Role of endoplasmic reticulum stress and c-Jun NH2-terminal kinase pathways in inflammation and origin of obesity and diabetes. Diabetes 2005; 54 (Suppl 2):S73-S78.
19. Koonen DP, Glatz JF, Bonen A, Luiken JJ. Long-chain fatty acid uptake and FAT/CD36 translocation in heart and skeletal muscle. Biochim Biophys Acta 2005; 1736:163-180.
20. Zierath JR. The path to insulin resistance: paved with ceramides? Cell Metab 2007; 5:161-163.
21. Nicholls DG. The physiological regulation of uncoupling proteins. Biochim Biophys Acta 2006; 1757:459-466.
22. Borst TP, Loos JA, Christ EJ, Slater EC. Uncoupling activity of long-chain fatty acids. Biochim Biophys Acta 1962; 62:509-518.
23. Vaartjes WJ, van den Bergh SG. The oxidation of long-chain unsaturated fatty acids by isolated rat liver mitochondria as a function of substrate concentration. Biochim Biophys Acta 1978; 503:437-449.
24. Beck V, Jaburek M, Demina T, et al. Polyunsaturated fatty acids activate human uncoupling proteins 1 and 2 in planar lipid bilayers. FASEB J 2007; 21:1137-1144.
25. Blaak EE, Hul G, Verdich C, et al. Impaired fat-induced thermogenesis in obese subjects: the NUGENOB study. Obesity (Silver Spring) 2007; 15:653-663.
26. Hirabara SM, Silveira LR, Alberici LC, et al. Acute effect of fatty acids on metabolism and mitochondrial coupling in skeletal muscle. Biochim Biophys Acta 2006; 1757:57-66. Shows that fatty acids induce mitochondrial uncoupling in muscle tissue.
27. Boudina S, Sena S, O'Neill BT, et al. Reduced mitochondrial oxidative capacity and increased mitochondrial uncoupling impair myocardial energetics in obesity. Circulation 2005; 112:2686-2695.
28. Xu H, Barnes GT, Yang Q, et al. Chronic inflammation in fat plays a crucial role in the development of obesity-related insulin resistance. J Clin Invest 2003; 112:1821-1830.
29. Rajala MW, Scherer PE. The adipocyte - at the crossroads of energy homeostasis, inflammation, and atherosclerosis. Endocrinology 2003; 144:3765-3773.
30. Hotamisligil GS, Spiegelman BM. Tumor necrosis factor alpha: a key component of the obesity-diabetes link. Diabetes 1994; 43:1271-1278.
31. Ryden M, Dicker A, van Harmelen V, Hauner H, et al. Mapping of early signaling events in tumor necrosis factor-alpha-mediated lipolysis in human fat cells. J Biol Chem 2006; 277:1085-1091.
32. Weinberg JM. Lipotoxicity. Kidney Int 2006; 70:1560-1566.
33. Kahn SE. The relative contributions of insulin resistance and beta-cell dysfunction to the pathophysiology of type 2 diabetes mellitus. Diabetologia 2003; 46:3-19.
34. Wellen KE, Fucho R, Gregor MF, et al. Coordinated regulation of nutrient and inflammatory responses by STAMP2 is essential for metabolic homeostasis. Cell 2007; 129:537-548. This study shows the pivotal role of adipocytes in glucose homeostasis.
35. Hosogai N, Fukuhara A, Oshima K, et al. Adipose tissue hypoxia in obesity and its impact on adipocytokine dysregulation. Diabetes 2007; 56:901-911. Describes the presence of hypoxia in expanding adipose tissue.
36. Trayhurn P, Wood IS. Adipokines: inflammation and the pleiotropic role of white adipose tissue. Br J Nutr 2004; 92:347-355.
37. Laaksonen DE, Lindstrom J, Lakka TA, et al. Physical activity in the prevention of type 2 diabetes: the Finnish diabetes prevention study. Diabetes 2005; 54:158-165.
38. Roden M. Muscle triglycerides and mitochondrial function: possible mechanisms for the development of type 2 diabetes mellitus. Int J Obes (Lond) 2005; 29 (Suppl 2):S111-S115.
39. Morino K, Petersen KF, Shulman GI. Molecular mechanisms of insulin resistance in humans and their potential links with mitochondrial dysfunction. Diabetes 2006; 55 (Suppl 2):S9-S15.
40. Mootha VK, Lindgren CM, Eriksson KF, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 2003; 34:267-273.
41. Knouff C, Auwerx J. Peroxisome proliferator-activated receptor-gamma calls for activation in moderation: lessons from genetics and pharmacology. Endocr Rev 2004; 25:899-918.
42. Wilson-Fritch L, Nicoloro S, Chouinard M, et al. Mitochondrial remodeling in adipose tissue associated with obesity and treatment with rosiglitazone. J Clin Invest 2004; 114:1281-1289.
43. Bogacka I, Xie H, Bray GA, Smith SR. Pioglitazone induces mitochondrial biogenesis in human subcutaneous adipose tissue in vivo. Diabetes 2005; 54:1392-1399.
44. Kahn SE, Haffner SM, Heise MA, et al. Glycemic durability of rosiglitazone, metformin, or glyburide monotherapy. N Engl J Med 2006; 355:2427-2443.
45. Vianna CR, Huntgeburth M, Coppari R, et al. Hypomorphic mutation of PGC-1beta causes mitochondrial dysfunction and liver insulin resistance. Cell Metab 2006; 4:453-464. Shows that a mere reduction of mitochondrial function in muscle does not lead to muscle insulin resistance.
46. Choo HJ, Kim JH, Kwon OB, et al. Mitochondria are impaired in the adipocytes of type 2 diabetic mice. Diabetologia 2006; 49:784-791.
47. Maassen JA, 't Hart LM, Janssen GM, et al. Mitochondrial diabetes and its lessons for common Type 2 diabetes. Biochem Soc Trans 2006; 34:819-823. Describes possible consequences of a mitochondrial dysfunction to pancreatic beta cells.