Inheritance in mitochondrial Genome and its related diseases

Mitochondria are ubiquitous in eukaryotes and are essential for survival. Their primary function is to support aerobic respiration and to provide energy substrates for intracellularmetabolic pathways. Given its fundamental role in the human body, defects of mitochondrial function can have disastrous consequences. Human mitochondrial diseases encompass mutations of mtDNA and nuclear DNA. This review aims to provide an update on the involvement of mitochondrial DNA in human disease, its inheritance pattern and relationship between genotype and phenotype in mitochondrial diseases. Improved understanding of mtDNA inheritance and mutation penetrance patterns, offer significantprospects for more accurate genetic counselling and effective future therapies.