MITOCHONDRIAL LEUCINE tRNA GENE MUTATION AND MATERNALLY INHERITED CARDIOVASCULAR DISEASE (CVD) IN PAKISTANI POPULATION

Abstract

Hypertension is a frequent, chronic, age-related disorder, which remains a major modifiable risk factor for cardiovascular disease (CVD) despite important advances in our understanding of its pathophysiology. In the present study, we performed mtDNA tRNA^{Leu (UUR)} gene mutation analysis in Pakistani population. Twenty samples from CVD patients were collected at various hospitals in Swat, Pakistan and DNA was extracted from their saliva. The mitochondrial tRNA^Leu(UUR gene was amplified using Polymerase Chain Reaction (PCR) using specified primers and ten samples from different families were sequenced. The sequencing data presentation showed a two-nucleotide mismatch in the alignment. The A-to-G mutation in nucleotide pair 3243 of the mitochondrial gene was not found in the subject of pedigree first. Notably, this subject did not display the A-to-G mutation at nucleotide pair 3243 in the mitochondrial gene shown in 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.