title: Mutations causing mitochondrial disease: What is new and what challenges remain?
abstract: 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.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences and Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
authors.forename: Robert N
authors.initials: RN
authors.lastname: Lightowlers
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences and Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences and Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. doug.turnbull@ncl.ac.uk.
authors.forename: Doug M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D002467:Cell Nucleus / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010085:Oxidative Phosphorylation; D015995:Prevalence
chemical_list: D004272:DNA, Mitochondrial