Sequencing Analysis of the Mitochondrial tRNA-Leucine Gene in Maternally Inherited Cardiovascular Disease Among the Human Population of Pakistan

Abstract

Despite our increased understanding of its mechanisms, hypertension remains a modifiable risk factor for cardiovascular disease (CVD), a prevalent and chronic illness mostly affecting the elderly. The purpose of this research was to examine the mutation status of the mtDNA tRNALeu (UUR) gene in all Pakistanis. Twenty samples from persons with cardiovascular illness were collected from several hospitals in Swat, Pakistan, and DNA was extracted from their saliva. Polymerase Chain Reaction (PCR) was employed to amplify the mitochondrial tRNALeu (UUR gene using particular primers, and sequencing was conducted on 10 samples from various families. The sequencing results revealed a two-nucleotide discrepancy in the alignment. The A-to-G mutation at nucleotide pair 3243 of the mitochondrial gene was not initially detected in the subject of the pedigree. The patient did not demonstrate the A-to-G mutation at nucleotide position 3243 in the specified mitochondrial gene of the third pedigree. The present research concluded, that mitochondria as the target and origin of major pathogenic pathways which lead to the progression of CVD. The alignment of the patient's R-1 sequencing data and showed one sample of results, because we find any mutation in the mtDNA tRNALeu ^(UUR) gene in the patients with CVD.  Recent research indicates that mitochondria function as both the target and origin of critical pathogenic pathways that facilitate the progression of cardiovascular disease (CVD). The alignment of the patient's R-1 sequencing data disclosed a unique sample of findings, signifying the existence of a mutation in the mtDNA tRNALeu (UUR) gene in patients with cardiovascular disease (CVD).