Identifikasi Mutasi DNA Daerah HV1 dan HV2 D-Loop Mitokondria dari Pasien Diabetes Mellitus Tipe 2 (DMT2)

Abstract

Type 2 diabetic mellitus (T2DM) is a disease which is caused by insufficient insulin amount or ineffective insulin action to breakdown glucose. This disease is an accumulation from unhealthy lifestyle and for some people, they inherit T2DM from their parents. T2DM is related to mitochondria DNA (mtDNA) dysfunction due to DNA mutation. D-loop area is a control region in mtDNA, which is has a highest rate of DNA mutation. It divided into two areas, HV1 and HV2. Therefore, it need a lot of information to study T2DM genetically. There three stages in this research, D-loop DNA fragment amplification from four blood samples, namely DM01, DM02, DM03, and DM04. Sequence determination of D-loop fragment, and mutation analysis. D-loop fragment amplification given 0,9 kilobase (kb) in size. Sequence DNA determination showed only three samples were successful to be sequenced (DM02, DM03, and DM04). Alignment analysis of D-loop fragment and reference (rRCS) show three substitution mutations, there are 16189T>C occur in DM02 and DM03, 16233C>T occur in DM02, DM03, DM04. Both mutation located in HV1 area. While 73A>G which located in HV2 occur in DM02, DM03, and DM04. 16189T>C in MITOMAP was related to diabetic, while 16233C>T was not related to any disease, while 73A>G was related to brain death cell.   Keywords:  Type 2 diabetic mellitus (T2DM), DNA mitochondria, D-loop, mutation, MITOMAP