ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Mitochondrial ATPase Subunit 6 and Cytochrome B Gene Variations in Obese Turkish Children [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2014; 6(4): 209-215 | DOI: 10.4274/jcrpe.1601

Mitochondrial ATPase Subunit 6 and Cytochrome B Gene Variations in Obese Turkish Children

Durkadın Demir1, Doğa Türkkahraman2, Anıl Aktaş Samur3, Güven Lüleci1, Sema Akçurin4, Özgül M. Alper1
1Akdeniz University Faculty Of Medicine, Department Of Medical Biology And Genetics, Antalya, Turkey
2Antalya Education And Research Hospital, Clinic Of Pediatric Endocrinology, Antalya, Turkey
3Akdeniz University Faculty Of Medicine, Department Of Biostatistics And Medical Informatics, Antalya, Turkey
4Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Turkey

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.

Keywords: Mitochondrial ATPase-6,mitochondrial cytochrome b,obesity,single nucleotide polymorphism

Durkadın Demir, Doğa Türkkahraman, Anıl Aktaş Samur, Güven Lüleci, Sema Akçurin, Özgül M. Alper. Mitochondrial ATPase Subunit 6 and Cytochrome B Gene Variations in Obese Turkish Children. J Clin Res Pediatr Endocrinol. 2014; 6(4): 209-215
Manuscript Language: English
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