Analysis of mitochondrial DNA mutations in Pakistani population diagnosed with cardiovascular diseases

Area of Science:

• Genetics
• Cardiology
• Mitochondrial Biology

Background:

• Cardiovascular disease (CVD) encompasses various heart and blood vessel disorders.
• Mitochondrial DNA mutations are increasingly implicated in complex diseases.
• The role of specific mitochondrial genes in CVD pathogenesis requires further investigation.

Purpose of the Study:

• To investigate the association between mitochondrial Leucine Transfer RNA genes (MT-TL1 and MT-TL2) and cardiovascular disease (CVD).
• To screen for mutations in MT-TL1 and MT-TL2 genes in a cohort of CVD patients from Peshawar, Pakistan.

Main Methods:

• DNA was extracted from 27 saliva samples of CVD patients.
• Mitochondrial Leucine Transfer RNA genes (MT-TL1 and MT-TL2) were amplified via polymerase chain reaction (PCR).
• PCR products underwent purification, sequencing, and alignment against the revised Cambridge Reference Sequence (rCRS).

Main Results:

• Sequencing and analysis revealed no alterations in the MT-TL1 and MT-TL2 genes within the studied patient samples.
• The investigated mitochondrial Leucine Transfer RNA genes did not show mutations in this cohort.

Conclusions:

• The study suggests that MT-TL1 and MT-TL2 genes may not be primary drivers of CVD in the studied Pakistani population.
• Larger population screening for mutations in mitochondrial-encoded Leucine Transfer RNA genes is recommended for Pakistani cardiac patients.
• Investigating other mitochondrial genes is advised for identifying potential genetic markers for early CVD detection in Pakistan.