Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population

Tohoku Journal of Experimental Medicine

Volumn 215, Issue 4, 2008, Pages 377-384

  Liao, Wen Qiang ^a   Pang, Yan ^b   Yu, Chang An ^a   Wen, Jian Yan ^a   Zhang, Yi Guan ^b   Li, Xiao Hui ^b  

^a CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^b THIRD MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Chinese; Haplogroup; Mitochondrial genome; Single nucleotide polymorphisms; Type 2 diabetes mellitus

Indexed keywords

EID: 54749151061     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.215.377     Document Type: Article

References (30)

1. Anderson, S., Bankier, A.T. & Bartell, B.G. (1981) Sequence and organization of the human mitochondrial genome. Nature, 290, 457-465.
2. Andrews, R.M., Kubacka, I. & Chinnery, P.F. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet., 23, 147.
3. Bhat, A., Koul, A. & Rai, E. (2007a) PGC-1α Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study. Human Genetics, 121, 609-614.
4. Bhat, A., Koul, A. & Sharma, S. (2007b) The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study. Human Genetics, 120, 821-826.
5. Canter, J.A., Kallianpur, A.R., & Parl, F.F. (2005) Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res., 65, 8028-8033.
6. Choo-Kang, A.T., Lynn, S. & Taylor, G.A. (2002) Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes, 51, 2317-2320.
7. Cortassa, S., Aon, M.A. & Marban, E. (2003) An integrated model of cardiac mitochondrial energy metabolism and calcium dynamics. Biophys. J., 84, 2734-2755.
8. Crouch, P.J., Cimdins, K. & Duce, JA. (2007) Mitochondria in aging and Alzheimer's disease. Rejuvenation Res., 10, 349-357.
9. Finnila, S., Lehtonen, M.S. & Majamaa, K. (2001) Phylogenetic network for European mtDNA. Am. J. Hum. Genet., 68, 1475-1474.
10. Fuku, N., Park, K.S. & Yamada, Y. (2007) Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am. J. Hum. Genet., 80, 407-415.
11. Guo, L.J., Oshida, Y. & Fuku, N. (2005) Mitochondrial genome polymorpisms: associated with type-2 diabetes or obesity. Mitochondrion, 5, 15-33.
12. Hermstadt, C., Elson, J.L. & Fahy, E. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian. and European haplogroups. Am. J. Hum. Genet., 70, 1152-1171.
13. Kato, T, Kunugi, H. & Nanko, S. (2001) Mitochondrial DNA polymorphisms in bipolar disorder. J. Affect. Disord., 62, 151-164.
14. Kokaze, A., IshikaWa. M. & Matsunaga, N. (2005) Longevity-Associated Mitochondrial Dna 5178 C/A Polymorphism Is Associated with Fasting Plasma Glucose Levels and Glucose Tolerance in Japanese Men. Mitochondrion, 5, 418-425.
15. Kokotas. H.. Petersen. M.B. & Willems, P.J. (2W7) Mitochondrial deafness. Clin. Genet., 71, 379-391.
16. Liu, S.M., Zhou, X. & Zheng, F. (2007) Novel mutations found in mitochondrial diabetes in Chinese Han population. Diabetes Res. Clin. Pract., 76, 425-435.
17. Lion, C.W., Lin, T.K. & Huei-Weng, H. (2007) A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: Additive effects of genetic and environmental factors. J. Clin. Endocrinol. Melab., 92, 235-239.
18. Luoma, P.T., Eerola, J. & Ahola, S. (2007) Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology, 69, 1152-1159.
19. Maechler & Wollheim (2001) Mitochondrial function in normal and diabetic beta-cells. Nature, 414, 807-812.
20. Mohlke, K.L., Jackson. A.U. & Scott, L.J. (2005) Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Human Genetics, 118, 245-254.
21. Mortiboys, H.J.. Schaefer, J. & Reichmann, H. (2007) Mitochondrial dysfunction in Parkinson's disease - revisited. Neurol. Neurochir Pol., 41, 150-159.
22. Mukae, S., Aoki. S. & Itoh. S. (2003) Mitochondrial 5178A/C genotype is associated with acute myocardial infarction. Circ. J. 67, 16-20.
23. Navaglia, F. Basso, D. & Fogar, P. (2006) Mitochondrial DNA D-loop in pancreatic cancer: somatic mutations are epiphienomena while the germline 16519 T variant worsens metabolism and outcome. Am. J. Clin. Pathol., 126, 593-601.
24. Nishigaki, Y., Yamada, Y. & Fuku, N. (2007) Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males. Human Genetics, 120, 827-836.
25. Salles, J.E., Kasamatsu, T.S. & Dib, S.A. (2007) Beta-cell function in individuals carrying the mitocbondrial tRNA leu (UUR) mutation. Pancreas., 34, 133-137.
26. Szendroedi, J., Schmid, A.I. & Chmelik, M. (2007) Muscle mitochondrial ATP synthesis and glucose transport/phosphorylation in type 2 diabetes. PLoS Med., 4, e154.
27. Takagi, K., Yamada, Y. & Gong, J.S. (2004) Association of a 5178C - ->A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals. Atherosclerosis, 175, 281-286.
28. Tang, D.L., Li, X., Zhao, L. & Liu, F. (2006) Variation of mitochondrial gene and the association with type 2 diabetes inellitus in a Chinese population. Diabetes Res. Clin. Pract., 73, 77-82.
29. Tawata, M., Hayashi, J.I. & Isobe, K. (2000) A new mitochondrial DNA mulation at 14577 T/C is probably a major pathogenic mutation for-maternally inherited type 2 diabetes. Diabetes, 49, 1269-1272.
30. Weng, S.W,, Liou, C.W. & Lin, T.K. (2005) Association of Mitochondrial Deoxyribonucleic Acid 16189 Variant (T->C Transition) with Metabolic Syndrome in Chinese Adults. J. Clin. Endocrinol. Metab., 90, 5037-5040.