Human Genetics

Mitochondrial Genetics focuses on the study of genetic material in mitochondria, the organelles responsible for energy production in cells. Unlike nuclear DNA, mitochondrial DNA (mtDNA) is inherited solely from the mother, making it vital for understanding maternal inheritance patterns and energy metabolism. Mitochondrial DNA contains genes crucial for cellular energy production via oxidative phosphorylation. Mutations in mtDNA can lead to disorders affecting high-energy-demand tissues, such as muscles and nerves, with conditions like Leber's hereditary optic neuropathy and mitochondrial myopathy. Mitochondrial dysfunction is also associated with aging and certain cancers, highlighting its significance in health and disease.