A3243G mitochondrial DNA mutation in Tunisian diabetic population

##plugins.themes.academic_pro.article.main##

Rym Bouhaha
Hafaoua Abid Kamoun
Amel Elgaaied
Hajer Ennafaa

Abstract

Background: An excess of maternal transmission of adult onset diabetes mellitus has been observed in the studied Tunisian patients, in fact, diabetic patients with affected mother are significantly more important than those with affected father (p< 10-6) There is increasing evidence that mtDNA mutations may be involved in this disease, since mitochondrial transmission offers a plausible explanation for a proportion of this maternal excess comparing to paternal transmission.
Aim : The aim of the present study was to investigate the mitochondrial DNA involvement in the inheritance of diabetes in Tunisian population and to evaluate the frequency of substitution A3243G in these patients.
Methods : In the current study we investigated for the first time, the 3243 mtDNA in 280 Tunisian diabetic patients.
Results : Results showed that the frequency of this substitution in tRNALeu is about 1,07%. This percentage is similar to those reported in Japanese, German and French populations.

Keywords:

Diabetes, Tunisian population, mitochondrial DNA, 3243 variant

##plugins.themes.academic_pro.article.details##

References

  1. Erasmus RT, Blanco E, Okesina AB, et al. Importance of family history in type 2 black South African diabetic patients. Postgrad Med J 2001;77:323-5.
  2. Young CA, Kumar S, Young MJ, et al. Excess maternal history of diabetes in Caucasian and Afro-origin non-insulin-dependent diabetic patients suggests dominant maternal factors in disease transmission. Diabetes Res Clin Pract 1995;28:47-9.
  3. Karter AJ, Rowell SE, Ackerson LM, et al. Excess maternal transmission of type 2 diabetes: the Northern California Kaiser Permanente Diabetes Registry. Diabetes Care 1999;22:938-43.
  4. Arfa I, Abid A, Malouche D, et al. Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia. Postgrad Med J 2007;83:348-351.
  5. Hale CN, and Barker DJ. Type 2 (non-insulindependent) diabetes mellitus: the thrifty phenotype hypothesis. Diabetologia 1992;35:595-601.
  6. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981;290:457-465.
  7. Johns DR. The other human genome: mitochondrial DNA and disease. Nat Med 1996; 2:1065-8.
  8. Hutchison CA, Newbold JE, Potter SS, et al. Maternal inheritance of mammalian mitochondrial DNA. Nature 1974;251:536-537.
  9. Giles RE, Stroynowski I, Wallace DC. Characterization of mitochondrial DNA in chloramphenicol-resistant interspecific ans cybrid. Somat Cell Mol Genet 1980;6:543-554.
  10. Smith PR., Dronsfield MJ, Minovic CH. The mitochondrial mtRNALeu(UUR) A to G 3243 mutation is associated with insulindependent and non-insulindependent diabetes in a Chinese population. Diabet Med 1997;14:1026-31.
  11. Reardon W, Ross RJ, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
  12. Van Den Ouweland JM, Lemkes HHPJ, Ruitenbeek W, et al. A mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
  13. Ciafaloni E, Ricci E, Servidei S, et al. Widespread tissue distribution of a mtRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991;41:1663-5.
  14. Matthews PM, Hopkin J, Stephenson JBP, et al.. Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 1994;31:41-4.
  15. Nomiyama T, Tanaka Y, Piao L, et al. Accumulation of Somatic Mutation in Mitochondrial DNA and Atherosclerosis in Diabetic Patients. Ann NY Acad Sci 2004;1011:193-204
  16. McCarthy MI. Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification. Hum Mol Genet 2004;13:33-41.
  17. Inoue K, Ikegami H, Fujisawa T, et al. High Degree of Mitochondrial 3243 Mutation in Gastric Biopsy Specimen in a Patient With MELAS and Diabetes Complicated by Marked Gastrointestinal Abnormalities. Diabetes Care 2003;26:2219-2219
  18. Kulkarni RN, Almind K, Goren HJ, et al. Impact of Genetic Background on Development of Hyperinsulinemia and Diabetes in Insulin Receptor/Insulin Receptor Substrate-1 Double Heterozygous Mice. Diabetes 2003;52:1528-1534.
  19. Vialettes B, Narbonne H. How to treat and manage mitochondrial diabetes. Journ Annu Diabetol Hotel Dieu 2001;179-84.
  20. 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;59:207-17.
  21. Klemm T, Neumann S, Trulzsch B, et al. Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus. Exp Clin Endocrinol Diabetes 2001;109:283-7.
  22. Guillausseau PJ, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 2001;1:721-8.
  23. Maassen JA, van den Ouweland JM, Hart LM, et al. Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. Horm Metab Res 1997;29:50-5.
  24. Kadowaki T, Kadowaki H, Mori Y et al. A subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA. The New England Journal of Medicine 1994;330:962-968