Mitochondrial DNA Mutations in Human Disease

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2005 Apr 30

PMID 15861210

Citations 727

Authors

Robert W Taylor

Doug M Turnbull

Affiliations

Soon will be listed here.

Abstract

The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.

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