Study of ND3 Dehydrogenase Gene Mutation from Local Isolate Type 2 Diabetes Mellitus
Rina Budi Satiyarti, Rahmaniar Mulyani, Tia Annisa

Jurusan Kimia, Fakultas Sains dan Teknologi Universitas Islam Negeri Sunan Gunung Djati
Program Studi Kimi, Fakultas Sains dan Informatika Universitas Jenderal Achmad Yani

Abstract

Mitochondria play an important role for producing ATP. ATP was produced by utilizing an electron from NADH and catalyzed by ATP Synthase. The electron was released from NADH and entered the inner mitochondria membrane by dehydrogenase reaction catalyzed by NADH dehydrogenase. ND3 dehydrogenase is one of subunit NADH dehydrogenase complex enzyme. Point mutation in ND3 dehydrogenase gene has been known commonly related to breast cancer and type 2 diabetes mellitus (T2DM). The objective of this research was to study mutations of ND3 gene sequence from local TD2M sample without complication disease. This research was done by following four steps, there were DNA template isolation from two blood samples of T2DM patients, DNA amplification using PCR technique, sequencing and homology analysis, and in silico analysis. There is one nucleotide variation found in sample one G10310A, which is a silent mutation. From sample 2 there were three nucleotide variation namely, G10364A, A10398G and C10400T. Only A10398G was altered amino acid T114A. In silico analysis showed that the amino acid mutation gave a structural protein changed in tail part. This alteration may assumed give an increasing of ROS level in mitochondria.

Keywords: Mitochondria, NADH dehydrogenase, ND3 dehydrogenase, mutation

Topic: LIFE SCIENCES