SNP (Single Nucleotide Polymorphism) Analysis of Mitochondrial ATPase Subunit 6 and Cytochrome B genes in pediatric obese cases

Obesity is characterised by excessive body lipid accumulation which becomes an epidemic disease with increasing prevalance around the world. In Turkey, obesity affects more than 30% of Turkish society. Based on a recent study, 5.9% of 781 children are obese in TurkeyUp to date, several nuclear coded genes were found related with obesity, such as leptin (LEP) gene on chromosome 7q, leptin receptor (LEPR) gene on 1p, pro-opiomelanocortine (POMC) gene on 2p, melanocortine 4 receptor (MC4-R) gene on 18q, melanocortin 3 receptor (MC3-R) gene on 20q, prohormone convertase 1 (PC1) gene on 5q, and peroksisome proliferator activated receptor gama 2 (PPAR) gene on chromosome 3p. Due to the importance of energy metabolism in mitochondria, mitochondrial genome variations are evaluated in energy related diseases, like obesity. A lot of polymorphisms were detected in MTATP6 and MTCYB genes which are highly polymorphic mitochondrial genes. It was shown that a variant of MTCYB gene may be important for Japanese obese cases. On the other hand, Italian researchers detected this variation only in 0.6% of Italian obeses. This condition described as geographic and ethnic differences which influence the mitochondrial genome variationsThe aim of our project is to investigate the SNP profiles in MTATP6 and MTCYB genes in Turkish obese cases and to determine the genotype-phenotype relationship. MTATP6 and MTCYB genes were sequenced in a series of 100 obese and 100 control cases. 7 nonsynonymous, 13 synonymous variations in MTATP6; 9 nonsynonymous, 9 synonymous variations in MTCYB gene were detected in obese cases. On the other hand, 6 nonsynonymous, 7 synonymous variations in MTATP6; 9 nonsynonymous, 9 synonymous variations in MTCYB genes were detected in control cases. 7 novel variations in MTATP6 gene and 5 novel variations in MTCYB gene were detected in obese cases. Synonymous m.8614 T>C, m.8994 G>A variations found in obese cases are significantly higher than in control group (p<0.05). There is not any significant difference between MTCYB variations of obese and control casesOur project is important, because of being investigated the relationship between MTATP6 and MTCYB gene SNP profiles and ?pediatric obesity?. More research should be done for to collect mitochondrial SNP profiles in younger and adult group in Turkey.