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Biomedical Research Journal

Volume 3, Issue 1, April 2016, Pages 5-22


Role of Mitochondrial Genetics in Complex Diseases

Namrata Londhe and Jaya Vyas*

Genetics Department, Lab medicine, Kokilaben Dhirubhai Ambani Hospital,
Four Bunglows, Andheri (W), Mumbai – 400053, India

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 and 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 better and 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.

Key words:

Mitochondrial diseases, mitochondrial genome complexities, inheritance, heteroplasmy, diagnosis, Next Generation Sequencing

*Corresponding Author:

Jaya Vyas, Genetics Department, Lab medicine, Kokilaben Dhiru bhai Ambani Hospital, Four Bunglows, Andheri (W), Mumbai–400053, India. E-mail:; Tel: +91-22-30977012

Cite this article as:

Londhe N, Vyas J. Role of mitochondrial genetics in complex diseases. Biomed Res J 2016;3(1):5-22

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