Human Mitochondrial DNA: Roles of Inherited and Somatic Mutations

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2012 Nov 17

PMID 23154810

Citations 336

Authors

Eric A Schon

Salvatore DiMauro

Michio Hirano

Affiliations

Soon will be listed here.

Abstract

Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.

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