Maternally inherited diabetes and deafness in a North American kindred: Tips for making the diagnosis and review of unique management issues

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 12, 2006, Pages 4737-4742

  Donovan, Lois E ^a,b   Severin, Naomi E ^a  

^a UNIVERSITY OF CALGARY   (Canada)

^b NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CREATINE KINASE MB; GLIBENCLAMIDE; HEMOGLOBIN A1C; INSULIN; MITOCHONDRIAL DNA; THALLIUM; UBIDECARENONE;

ADULT; ANAMNESIS; AUDIOMETRY; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOSE RESPONSE; EXERCISE TOLERANCE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; MATERNALLY INHERITED DIABETES AND DEAFNESS; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; NORTH AMERICA; PERCEPTION DEAFNESS; PHENOTYPE; PREGNANCY DIABETES MELLITUS; PRIORITY JOURNAL;

EID: 33845496532     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-1498     Document Type: Conference Paper

References (34)

1. Stride A, Hattersley AT 2002 Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 34:207-216
2. Jones DL, Greenaway TM 2004 Beware the thin, deaf "type 2" diabetic: maternally inherited diabetes and deafness with systemic (mitochondrial) manifestations. Intern Med J 34:517-518
3. Owen MR, Doran E, Halestrap AP 2000 Evidence that metformin exerts its anti-diabetic effects through inhibition of complex 1 of the mitochondrial respiratory chain. Biochem J 348(Pt 3):607-614
4. Maassen JA, Jahangir Tafrechi RS, Janssen GM, Raap AK, Lemkes HH, 't Hart LM 2006 New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome. Endocrinol Metab Clin North Am 35:385-396, x-xi
5. Suzuki S 2004 Diabetes mellitus with mitochondrial gene mutations in Japan. Ann NY Acad Sci 1011:185-192
6. Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, Bertin E, Blickle JF, Bouhanick B, Cahen J, Caillat-Zucman S, Charpentier G, Chedin P, Derrien C, Ducluzeau PH, Grimaldi A, Guerci B, Kaloustian E, Murat A, Olivier F, Paques M, Paquis-Flucklinger V, Porokhov B, Samuel-Lajeunesse J, Vialettes B 2001 Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134:721-728
7. Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, 't Hart LM, Smeets HJ, Bruijn JA, Lemkes HH 1997 Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease. J Am Soc Nephrol 8:1118-1124
8. Massin P, Virally-Monod M, Vialettes B, Paques M, Gin H, Porokhov B, Caillat-Zucman S, Froguel P, Paquis-Fluckinger V, Gaudric A, Guillausseau PJ 1999 Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. Ophthalmology 106:1821-1827
9. Becker R, Laube H, Linn T, Damian MS 2002 Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243. Exp Clin Endocrinol Diabetes 110:291-297
10. Holmes-Walker DJ, Ward GM, Boyages SC 2001 Insulin secretion and insulin sensitivity are normal in non-diabetic subjects from maternal inheritance diabetes and deafness families. Diabet Med 18:381-387
11. Wittenhagen LM, Kelley SO 2002 Dimerization of a pathogenic human mitochondrial tRNA. Nat Struct Biol 9:586-590
12. King MP, Koga Y, Davidson M, Schon EA 1992 Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 12:480-490
13. Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, Angelini C, Attardi G 1992 MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89:4221-4225
14. Van Dam PS, Van Asbeck BS, Erkelens DW, Marx JJ, Gispen WH, Bravenboer B 1995 The role of oxidative stress in neuropathy and other diabetic complications. Diabetes Metab Rev 11:181-192
15. Dandona P, Thusu K, Cook S, Snyder B, Makowski J, Armstrong D, Nicotera T 1996 Oxidative damage to DNA in diabetes mellitus. Lancet 347:444-445
16. Lorenzi M, Montisano DF, Toledo S, Barrieux A 1986 High glucose induces DNA damage in cultured human endothelial cells. J Clin Invest 77:322-325
17. Suzuki S, Hinokio Y, Komatu K, Ohtomo M, Onoda M, Hirai S, Hirai M, Hirai A, Chiba M, Kasuga S, Akai H, Toyota T 1999 Oxidative damage to mitochondrial DNA and its relationship to diabetic complications. Diabetes Res Clin Pract 45:161-168
18. Pang CY, Lee HC, Wei YH 2001 Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes. Diabetes Res Clin Pract 54(Suppl 2):S45-S56
19. Lynn S, Borthwick GM, Charnley RM, Walker M, Turnbull DM 2003 Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic β cells. Diabetologia 46:296-299
20. Aggarwal P, Gill-Randall R, Wheatley T, Buchalter MB, Metcalfe J, Alcolado JC 2001 Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. Hum Hered 51:114-116
21. Hosono T, Suzuki M, Chiba Y 2001 Contraindication of magnesium sulfate in a pregnancy complicated with late-onset diabetes mellitus and sensory deafness due to mitochondrial myopathy. J Matern Fetal Med 10:355-356
22. Frei B, Kim MC, Ames BN 1990 Ubiquinol-10 is an effective lipid-soluble antioxidant at physiological concentrations. Proc Natl Acad Sci USA 87:4879-4883
23. Richter C 1995 Oxidative damage to mitochondrial DNA and its relationship to ageing. Int J Biochem Cell Biol 27:647-653
24. Ogasahara S, Yorifuji S, Nishikawa Y, Takahashi M, Wada K, Hazama T, Nakamura Y, Hashimoto S, Kono N, Tarui S 1985 Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology 35:372-377
25. Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Cossutta E, Binda A, Gallanti A, Gabellini S, Piccolo G, Martinuzzi A, Ciafaloni E, Arnaudo E, Liciardello L, Carenzi A, Scarlato G 1990 Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. J Neurol Sci 100:70-78
26. Chen RS, Huang CC, Chu NS 1997 Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. Eur Neurol 37:212-218
27. Goda S, Hamada T, Ishimoto S, Kobayashi T, Goto I, Kuroiwa Y 1987 Clinical improvement after administration of coenzyme Q10 in a patient with mitochondrial encephalomyopathy. J Neurol 234:62-63
28. Nishikawa Y, Takahashi M, Yorifuji S, Nakamura Y, Ueno S, Tarui S, Kozuka T, Nishimura T 1989 Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR study. Neurology 39:399-403
29. Suzuki S, Hinokio Y, Ohtomo M, Hirai M, Hirai A, Chiba M, Kasuga S, Satoh Y, Akai H, Toyota T 1998 The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation. Diabetologia 41:584-588
30. Silvestre-Aillaud P, BenDahan D, Paquis-Fluckinger V, Pouget J, Pelissier JF, Desnuelle C, Cozzone PJ, Vialettes B 1995 Could coenzyme Q10 and L-carnitine be a treatment for diabetes secondary to 3243 mutation of mtDNA? Diabetologia 38:1485-1486
31. Hodgson JM, Watts GF, Playford DA, Burke V, Croft KD 2002 Coenzyme Q10 improves blood pressure and glycaemic control: a controlled trial in subjects with type 2 diabetes. Eur J Clin Nutr 56:1137-1142
32. Shults CW, Flint Beal M, Song D, Fontaine D 2004 Pilot trial of high dosages of coenzyme Q10 in patients with Parkinson's disease. Exp Neurol 188:491-494
33. Belardinelli R, Mucaj A, Lacalaprice F, Solenghi M, Seddaiu G, Principi F, Tiano L, Littarru GP, Coenzyme Q10 and exercise training in chronic heart failure. Eur Heart J, in press
34. Marriage BJ, Clandinin MT, Macdonald IM, Glerum DM 2004 Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders. Mol Genet Metab 81:263-272