Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

By G. Gorman, A. Schaefer, Y. Ng, N. Gomez, E. Blakely, C. Alston, C. Feeney, R. Horvath, P. Yu‐Wai‐Man, Patrick F. Chinnery and 3 more. Annals of Neurology, 2015

885 citations recorded by the source corpus.

The prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (mtDNA) rearrangements and point mutations. The revolution in genetic technologies has allowed interrogation of the nuclear genome in a manner that has dramatically improved the diagnosis of mitochondrial disorders. We comprehensively assessed the prevalence of all forms of adult mitochondrial disease to include pathogenic mutations in both nuclear and mtDNA.

Subfields: Molecular Biology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/8100eeb8d4605319d9490600d58d693eff925a8f

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Citations in the corpus

• The role of metabolism in chondrocyte dysfunction and the progression of osteoarthritis. (2020, background): “Multiple copies of mtDNA exist in cells, resulting in mtDNA heteroplasmy (Gorman et al., 2015).”