Journal of Diabetes and Its Complications
Volume 24, Issue 4 , Pages 270-277 , July 2010

The heteroplasmic m.14709T>C mutation in the tRNAGlu gene in two Tunisian families with mitochondrial diabetes

  • Najla Mezghani

      Affiliations

    • Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, Sfax, Tunisia
    • ,
  • Emna Mkaouar-Rebai

      Affiliations

    • Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, Sfax, Tunisia
    • ,
  • Mouna Mnif

      Affiliations

    • Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax, Sfax, Tunisia
    • ,
  • Nadia Charfi

      Affiliations

    • Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax, Sfax, Tunisia
    • ,
  • Nabila Rekik

      Affiliations

    • Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax, Sfax, Tunisia
    • ,
  • Saoussan Youssef

      Affiliations

    • Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, Sfax, Tunisia
    • ,
  • Mohamed Abid

      Affiliations

    • Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax, Sfax, Tunisia
    • ,
  • Faiza Fakhfakh

      Affiliations

    • Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, Sfax, Tunisia
    • Corresponding Author InformationCorresponding author. Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, Avenue Magida Boulila, 3029 Sfax, Tunisia. Tel.: +216 74 241 888 (ext 350); fax: +216 74 461 403.

Received 12 September 2009 ,Revised 26 October 2009 ,Accepted 18 November 2009.

References 

  1. Akbari M, Skjelbred C, Følling I, Sagen J, Krokan HE. A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR)) applied to a Norwegian family with diabetes mellitus and hearing loss. Scandinavian Journal of Clinical and Laboratory Investigation. 2004;64:86–92
  2. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nature Genetics. 1999;23:147
  3. Au WS, Lu L, Yeung CM, Liu CC, Wong OG, Lai L, et al. Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness. Journal of Molecular Endocrinology. 2008;41:229–238
  4. Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, et al. MITOMAP: A human mitochondrial genome database—2004 update. Nucleic Acids Research. 2005;33:D611–D613
  5. Cao W, Hashibe M, Rao JY, Morgenstern H, Zhang ZF. Comparison of methods for DNA extraction from paraffin-embedded tissues and buccal cells. Cancer Detection and Prevention. 2003;27:397–404
  6. Chen G, Li W, DU WD, Cao HM, Tang HY, Tang XF, et al. Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes. Yi Chuan. 2008;30:1279–1286
  7. Crispim D, Canani LH, Gross JL, Tschiedel B, Souto KE, Roisenberg I. Familial history of type 2 diabetes in patients from Southern Brazil and its influence on the clinical characteristics of this disease. Arquivos Brasileiros de Endocrinologia e Metabologia. 2006;50:862–868
  8. Crispim D, Estivalet AA, Roisenberg I, Gross JL, Canani LH. Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arquivos Brasileiros de Endocrinologia e Metabologia. 2008;52:1228–1235
  9. Damore ME, Speiser PW, Slonim AE, New MI, Shanske S, Xia W, et al. Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review. Journal of Pediatric Endocrinology & Metabolism. 1999;12:207–213
  10. Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature. 1990;348:651–653
  11. Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. American Journal of Human Genetics. 1995;56:1026–1033
  12. Helm M, Florentz C, Chomyn A, Attardi G. Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). Nucleic Acids Research. 1999;27:756–763
  13. Kirino Y, Goto Y, Campos I, Arenas Y, Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proceedings of the National Academy of Sciences of USA. 2005;102:7127–7132
  14. Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, et al. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). American Journal of Human Genetics. 1991;49:590–599
  15. Kong W, Wang Q, Zheng X, Cheng H. Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2002;37:338–342
  16. Kornblum C, Broicher R, Walther E, Herberhold S, Klockgether T, Herberhold C, et al. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns–Sayre syndrome. Journal of Neurology. 2005;252:1101–1107
  17. Lee HC, Song YD, Li HR, Park JO, Suh HC, Lee E, et al. Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea. Journal of Clinical Endocrinology & Metabolism. 1997;82:372–374
  18. Lewin HA, Stewart-Haynes JA. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques. 1992;13:522–524
  19. Li MZ, Yu DM, Yu P, Liu DM, Wang K, Tang XZ. Mitochondrial gene mutations and type 2 diabetes in Chinese families. Chinese Medical Journal. 2008;121:682–686
  20. Liao WQ, Pang Y, Yu CA, Wen JY, Zhang YG, Li XH. Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population. Tohoku Journal of Experimental Medicine. 2008;215:377–384
  21. Liu L, Zheng T, Wang F, Wang N, Song Y, Li M, et al. Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetes. Diabetes Care. 2009;
  22. Liu SM, Zhou X, Zheng F, Li X, Liu F, Zhang HM, et al. Novel mutations found in mitochondrial diabetes in Chinese Han population. Diabetes Research and Clinical Practice. 2007;76:425–435
  23. Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, et al. Mitochondrial diabetes: Molecular mechanisms and clinical presentation. Diabetes. 2004;53(Suppl 1):S103–S109
  24. Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, et al. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. Journal of Neurological Sciences. 2005;228:93–97
  25. McFarland R, Schaefer AM, Gardner A, Lynn S, Hayes CM, Barron MJ. Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation. Annals of Neurology. 2004;55:478–484
  26. Mkaouar-Rebai E, Tlili A, Masmoudi S, Fakhfakh F. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochemical and Biophysical Research Communications. 2007;355:1031–1037
  27. Ng MC, Yeung VT, Chow CC, Li JK, Smith PR, Mijovic CH, et al. Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese. Clinical Endocrinology. 2000;52:557–564
  28. Ohkubo K, Yamano A, Nagashima M, Mori Y, Anzai K, Akehi Y, et al. Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. Clinical Chemistry. 2001;47:1641–1648
  29. Pandey AK, Bhardwaj V, Datta M. Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells. FEBS Journal. 2009;276:3757–3769
  30. Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, et al. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. Journal of the Formosan Medical Association. 1999;98:326–334
  31. Park H, Davidson E, King MP. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry. 2003;42:958–964
  32. Ren Y, Li XJ, Tian HM, Liang JZ, Han LC, Zang XX, et al. Molecular scanning of candidate mtDNA gene fragment in diabetic pedigrees. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:181–185
  33. Rieder MJ, Taylor SL, Tobe VO. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Research. 1998;26:967–973
  34. Rigoli L, Prisco F, Caruso RA, Iafusco D, Ursomanno G, Zuccarello D, et al. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. Diabetic Medicine. 2001;18:334–336
  35. Salles JE, Kasamatsu TS, Dib SA. Beta-cell function in individuals carrying the mitochondrial tRNALeu(UUR) mutation. Pancreas. 2007;34:133–137
  36. Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K, et al. Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. Diabetes Care. 1997;20:1138–1140
  37. Suzuki Y, Taniyama M, Muramatsu T, Ohta S, Murata C, Atsumi Y, et al. Mitochondrial tRNA(Leu(UUR)) mutation at position 3243 and symptomatic polyneuropathy in type 2 diabetes. Diabetes Care. 2003;26:1315–1316
  38. Tang DL, Zhou X, Zhou KY, Li X, Zhao L, Liu F, et al. Association of mitochondrial DNA variation with type 2 diabetes mellitus. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:636–640
  39. Van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genetics. 1992;5:368–371
  40. Vialettes B, Paquis-Flucklinger V, Pellissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, et al. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Diabetes Care. 1997;20:1731–1737
  41. Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia. 2007;50:2085–2089

☆ This work was supported by The Tunisian Ministry of Higher Education, Scientific Research and Technology.

PII: S1056-8727(09)00128-7

doi: 10.1016/j.jdiacomp.2009.11.002

Journal of Diabetes and Its Complications
Volume 24, Issue 4 , Pages 270-277 , July 2010

Article Tools

* Image Usage & Resolution