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Mutations causing mitochondrial disease: What is new and what challenges remain?

Lookup NU author(s): Professor Robert Lightowlers, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Mitochondrial diseases are among the most common and most complex of all inherited genetic diseases. The involvement of both the mitochondrial and nuclear genome presents unique challenges, but despite this there have been some remarkable advances in our knowledge of mitochondrial diseases over the past few years. A greater understanding of mitochondrial genetics has led to improved diagnosis as well as novel ways to prevent transmission of severe mitochondrial disease. These and other advances have had a major impact on patient care, but considerable challenges remain, particularly in the areas of therapies for those patients manifesting clinical symptoms associated with mitochondrial dysfunction and the tissue specificity seen in many mitochondrial disorders. This review highlights some important recent advances in mitochondrial disease but also stresses the areas where progress is essential.

Publication metadata

Author(s): Lightowlers RN, Taylor RW, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Science

Year: 2015

Volume: 349

Issue: 6255

Pages: 1494-1499

Print publication date: 25/09/2015

Acceptance date: 01/01/1900

ISSN (print): 0036-8075

ISSN (electronic): 1095-9203



DOI: 10.1126/science.aac7516