Role of mitochondrial genetics in complex diseases

Abstract

The challenge in managing patients with mitochondrial diseases is in its complex nature as exemplified in the inheritance pattern and clinical presentation of mitochondrial diseases. Besides involvement of the nuclear genes, mitochondrial genes independently or together add to the complexity. Transmission of mitochondrial genome mutations by maternal inheritance and presence of heteroplasmy, high mitochondrial mutation rates and absence of introns poses problems in diagnosis and protocols for identification, treatment, prevention and management of the patients. With the use of advanced techniques including next generation sequencing to simultaneously screen multiple genes for alterations, identification of targets for therapy and better patient management is envisaged. The current review attempts to understand the role of mitochondrial genome in complex diseases and the utility of technological advances in diagnosis of mitochondrial diseases.