Identification of ATPase6 gene mutation from cimahi clinical isolates

Diabetes mellitus is a mitochondrial disease, caused by ATP deficiency. ATP was produced by the OXPHOS system in the mitochondria. Mitochondrial ATPase6 was one of important enzyme in oxidative phosphorylation process of ATP synthesis. The aim of this research was to provide information of ATP6 gene mutation that correlated to DMT2. A pair of primers was designed by in silico study. Blood samples were taken from DMT2 patients. Blood cells were lysed to obtain DNA template. Amplification of ATP6 gene was done by Polymerase Chain Reaction (PCR) technique. The amplicon was analyzed by 1% agarose gel electrophoresis. The gel showed 0,7 kb band of amplicon. The nucleotide sequencing showed that the amplicon was 681 base pairs. Analysis of phylogenetic showed that the sequence was 94,08% identical to homo sapiens ATP6 gene. Homology analysis between ATP6 gene from genbank and ATP6 gene fragments showed that there was a mutation 8860A>G. Amino acid analysis showed that 8860A>G change the amino acid T112A. Interestingly. It both happened in all samples, and it is a haplogroup. This is mean, it need further research to convince 8860A>G related to DMT2.