SEQUENCE ANALYSIS OF MTND2 GENE IN FAMILIES SEGREGATING MATERNALLY INHERITED CVDS FROM DISTRICT MANSEHRA

https://doi.org/10.5281/zenodo.20094958

Abstract

Mitochondria, which are the cellular powerhouses, produce approximately 95% of the adenosine triphosphate (ATP) molecules required through cellular respiration. The aim of this study was to investigating mutations in mitochondrial encoded NADH dehydrogenase subunit 2 (mtND2) in CVD patients from District Mansehra, Pakistan. Blood specimens were collected from a total of 16 people from 5 distinct families, and DNA was extracted from these samples. Subsequently the target DNA segments of interest were then amplified via PCR (polymerase chain reaction). Next the resultant pieces of DNA were sequenced. Numerous variants were identified through mutation analysis of the mitochondrial genome in this study. Synonymous mutation m.4769A>G was observed in 15 samples, indicating a consistent presence across subjects. The variant m.5046G>A was identified in two individuals and variant m.4916A>G was identified in one individual. All of these variants have been reported with disease. Our investigation additionally revealed three (3) unique (novel) genetic variants in CVD patients, which were identified as m.4733T>C, m.4947T>C, m.4502T>C. An in-depth examination of the entire mitochondrial genome of CVDs subjects will help to shed light on potential processes and treatment options and enhance our understanding of the complex link between genetic variants and cardiovascular diseases in Pakistan.