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

• Published in: Science (American Association for the Advancement of Science) Vol. 349; no. 6255; pp. 1494 - 1499
• Main Authors: Lightowlers, Robert N, Taylor, Robert W, Turnbull, Doug M
• Format: Journal Article
• Language: English
• Published: United States The American Association for the Advancement of Science 25.09.2015
• Subjects: Cell Nucleus - genetics; DNA, Mitochondrial - genetics; Epidemiology; Genetic disorders; Humans; Medical diagnosis; Mitochondria; Mitochondria - genetics; Mitochondria - metabolism; Mitochondrial Diseases - epidemiology; Mitochondrial Diseases - genetics; Mitochondrial Diseases - therapy; Mutation; Oxidative Phosphorylation; Prevalence
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.aac7516

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.