Bioinformatics Study of m.9053G>A Mutation at the ATP6 Gene in Relation to Type 2 Diabetes Mellitus and Cataract Diseases.

ABSTRACT: The mitochondrial disease often associated with various illnesses in relation to the activity of cells metabolites and the synthesis of adenosine triphosphate (ATP), including alteration in the mitochondrial DNA. The mutation of m.9053G>A at the ATP6 gene was found in patients with type 2 diabetes mellitus (DM type 2) and cataract. Therefore, this mutation is predicted to be clinical features of the 2 diseases. ATP6 gene encodes protein subunit of ATPase6, a part of ATP synthase, which is important in the electron transfer and proton translocation in intracellular respiration system. This study aims to investigate the mutation effect of m.9053G>A at the ATP6 gene (S167N) to the structure and function of ATPase6 using bioinformatics method. The structure of ATPase6 was

SUBMITTER: Permana Maksum I 

PROVIDER: S-EPMC5598796 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature