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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.
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
Publisher: AMER ASSOC ADVANCEMENT SCIENCE
URL: http://dx.doi.org/10.1126/science.aac7516
DOI: 10.1126/science.aac7516
