Abstract
OBJECTIVE
Mitochondrial DNA (mtDNA) polymorphisms have been implicated in the pathophysiology of human diseases. Among them, a T>C nucleotide transition on the 16189 nucleotide position of mtDNA has been studied in several metabolic diseases including diabetes and obesity. In this study we aimed to investigate the association of this polymorphism among Turkish metabolic syndrome patients.
DESIGN
A total of 220 cases (70 MetS patients and 150 healthy control subjects) were evaluated for their mtDNA 16189 variant by PCR-RFLP technique. In addition, clinical and biochemical variables, such as cholesterol levels, body fat percentage, insulin resistance and presence of type II diabetes, were also evaluated.
RESULTS
Overall frequency of polymorphic C allele was determined as 0.19 without a significant association with type II diabetes and metabolic syndrome. This may be partly due to ethnical differences of populations studied and may also be related to other genetic and environmental factors. Moreover, there were no significant associations with biochemical variables among metabolic syndrome patients, except LDL and suppressed cortisol (sup-cortisol) levels. Low levels of LDL and sup-cortisol were significantly associated with the mtDNA 16189 variant, though the biochemical mechanism underlying this effect is not clear.
CONCLUSIONS
This is the first study involving a Turkish population on the mtDNA 16189 T>C polymorphism. Further studies with larger cohorts will be needed to elucidate its relation with metabolic syndrome as well as lipid metabolism.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Anderson S, Bankier AT, Barrell BG, et al, 1981 Sequence and organization of the human mitochondrial genome. Nature 290: 457–465.
Wallace DC, Brown MD, Lott MT, 1999 Mitochondrial DNA variation in human evolution and disease. Gene 238: 211–230.
Tanaka M, Takeyasu T, Fuku N, et al, 2004 Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann N Y Acad Sci 1011: 7–20.
Poulton J, Brown MS, Cooper A, et al, 1998 A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 41: 54–58.
Kim JH, Park KS, Cho YM, et al, 2002 The prevalence of the mitochondrial DNA 16189 variant in non-diabetic Korean adults and its association with higher fasting glucose and body mass index. Diabet Med 19: 681–684.
Mohlke KL, Jackson AU, Scott LJ, et al, 2005 Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Hum Genet 118: 245–254.
Crispim D, Fagundes NJ, Canani LH, et al, 2006 Role of the mitochondrial m.16189T>C variant in type 2 diabetes mellitus in southern Brazil. Diabetes Res Clin Pract 74: 204–206.
Liou CW, Lin TK, Huei Weng H, et al, 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 Metab 92: 235–239.
Bendall KE, Sykes BC, 1995 Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57: 248–256.
Hales CN, Barker DJ, Clark PM, et al, 1991 Fetal and infant growth and impaired glucose tolerance at age 64. BMJ 303: 1019–1022.
Casteels K, Ong K, Phillips D, et al, 1999 Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet 353: 1499–1500.
Poulton J, Luan J, Macaulay V, et al, 2002 Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet 11: 1581–1583.
Liou CW, Lin TK, Huang FM, et al, 2004 Association of the mitochondrial DNA 16189 T to C variant with lacunar cerebral infarction: evidence from a hospital-based case-control study. Ann N Y Acad Sci 1011: 317–324.
Weng SW, Liou CW, Lin TK, et al, 2005 Association of mitochondrial deoxyribonucleic acid 16189 variant (T->C transition) with metabolic syndrome in Chinese adults. J Clin Endocrinol Metab 90: 5037–5040.
Das S, Bennett AJ, Sovio U, et al, 2007 Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years. J Clin Endocrinol Metab 92: 3219–3223.
Saxena R, de Bakker PIW, Singer K, et al, 2006 Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet 79: 54–61.
Grundy SM, Brewer HB Jr, Cleeman JI, et al, 2004 Definition of metabolic syndrome: report of the National Heart, Lung, and Blood Institute/American Heart Association conference on scientific issues related to definition. Arterioscler Thromb Vasc Biol 24: e13–18.
Matthews DR, Hosker JP, Rudenski AS, et al, 1985 Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28: 412–419.
John SW, Weitzner G, Rozen R, et al, 1991 A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19: 408.
Reaven GM 1988 Banting lecture 1988. Role of insulin resistance in human disease. Diabetes 37: 1595–1607.
Park KS, Chan JC, Chuang LM, et al, 2008 A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians. Diabetologia 51: 602–608.
Chinnery PF, Elliott HR, Patel S, et al, 2005 Role of the mitochondrial DNA 16184–16193 poly-C tract in type 2 diabetes. Lancet 366: 1650–1651.
Marchington DR, Poulton J, Sellar A, et al, 1996 Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet 5: 473–479.
Wang PW, Lin TK, Weng SW, et al, 2009 Mitochondrial DNA variants in the pathogenesis of type 2 diabetes -relevance of asian population studies. Rev Diabet Stud 6: 237–246.
Ji L, Gao L, Han X, 2001 [Association of 16189 variant (T-->C transition) of mitochondrial DNA with genetic predisposition to type 2 diabetes in Chinese populations]. Zhonghua Yi Xue Za Zhi 81: 711–714.
Gill-Randall R, Sherratt EJ, Thomas AW, et al, 2001 Analysis of a polycytosine tract and heteroplasmic length variation in the mitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controls. Diabet Med 18: 413–416.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Aral, C., Akkiprik, M., Caglayan, S. et al. Investigation of relationship of the mitochondrial DNA 16189 T>C polymorphism with metabolic syndrome and its associated clinical parameters in Turkish patients. Hormones 10, 298–303 (2011). https://doi.org/10.14310/horm.2002.1321
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.14310/horm.2002.1321