Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children

Objective: due to the importance of energy metabolism in mitochondria,mitochondrial genome variations are evaluated in energy-related diseases such as obesity. to date,several nuclear genes were found to be related to obesity. our aim in this study was to investigate the presence of polymorphisms in mitochondrial atpase subunit 6 (mt-atp6) and cytochrome b (mt-cytb) genes that may be associated with childhood obesity.methods: the mt-atp6 and mt-cytb genes were amplified and entirely sequenced in a series of 100 obese and in an equal number of healthy turkish children aged between 6-14 years.results: a total of 118 synonymous and nonsynonymous variations were detected in the obese and control groups. only two previously reported synonymous substitutions (mt.8614t>c and mt.8994g>a) in the mt-atp6 gene were found to be significantly higher in the obese group compared to the control group (p<0.05). in the mt-atp6 gene,one novel nonsynonymous substitution (mt.8726c>t) and one novel synonymous substitution (mt.9108a>t) were found. in the mt-cytb gene,one nonsynonymous substitution (mt.14880t>c) and two synonymous substitutions (mt.14891c>t and mt.15091c>t) were novel substitutions.conclusion: two synonymous substitutions (mt.8614t>c and mt.8994g>a) in the mt-atp6 gene may be associated with childhood obesity. our study provides the first data about mitochondrial genome variations in a turkish obese population and also the first in obese children. more cases should be screened in obese groups in order to understand the effects of mitochondrial polymorphisms in the development of obesity. © journal of clinical research in pediatric endocrinology.