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Mitochondrial function is under dual genetic control \u2013 the 16.6\u2010kb mitochondrial genome, with only 37 genes, and the nuclear genome, which encodes the remaining \u223c1300 proteins of the mitoproteome. Mitochondrial dysfunction can arise because of defects in either mitochondrial DNA or nuclear mitochondrial genes, and can present in childhood or adulthood in association with vast clinical heterogeneity, with symptoms affecting a single organ or tissue, or multisystem involvement. There is no cure for mitochondrial disease for the vast majority of mitochondrial disease patients, and a genetic diagnosis is therefore crucial for genetic counselling and recurrence risk calculation, and can impact on the clinical management of affected patients. Next\u2010generation sequencing strategies are proving pivotal in the discovery of new disease genes and the diagnosis of clinically affected patients; mutations in &gt;250 genes have now been shown to cause mitochondrial disease, and the biochemical, histochemical, immunocytochemical and neuropathological characterization of these patients has led to improved diagnostic testing strategies and novel diagnostic techniques. This review focuses on the current genetic landscape associated with mitochondrial disease, before focusing on advances in studying associated mitochondrial pathology in two, clinically relevant organs \u2013 skeletal muscle and brain. \u00a9 2016 The Authors.\n                    <jats:italic>The Journal of Pathology<\/jats:italic>\n                    published by John Wiley &amp; Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.\n                  <\/jats:p>","DOI":"10.1002\/path.4809","type":"journal-article","created":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T07:50:54Z","timestamp":1474617054000},"page":"236-250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":433,"title":["The genetics and pathology of mitochondrial disease"],"prefix":"10.1002","volume":"241","author":[{"given":"Charlotte L","family":"Alston","sequence":"first","affiliation":[{"name":"Wellcome Trust Centre for 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