MITOCHONDRIAL DNA MUTATIONS IN HUMAN DISORDERS: MOLECULAR IMPACTS AND CLINICAL IMPLICATIONS

Abstract

Many human disorders that effect the brain, muscles, heart, and body metabolism are now recognized to be significantly influenced by mitochondrial abnormalities. This overview describes how these mutations arise, how they lead to illness, and how to identify and treat them. (Venditti & Di Meo, 2020). The regular process of energy synthesis in mitochondria is disrupted by alterations in mitochondrial DNA, such as point mutations, deletions, and rearrangements. Less ATP is generated as a result, which causes metabolic complications and progressive cell damage, particularly in tissues with high energy requirements. (De Gaetano and others, 2021).The diagnosis of mtDNA mutations has significantly improved thanks to modern diagnostic methods including next-generation sequencing, digital PCR, and computer-based heteroplasmy analysis. These methods have also helped medical professionals better comprehend the connection between genetic alterations and clinical symptoms. (Silvestri et al., 1992). Future research should aim to improve diagnostic standards, develop safer gene-based treatments, and create preventive strategies to effectively use mitochondrial genetic knowledge in clinical medicine. (Silvestri et al., 1992).