Article
The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
Mitochondrion - 1 Nov 2015
Elson Joanna L, Smith Paul M, Greaves Laura C, Lightowlers Robert N, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W, Vila-Sanjurjo Antón
Abstract excerpt
Mitochondrial DNA mutations are well recognized as an important cause of disease, with over two hundred variants in the protein encoding and mt-tRNA genes associated with human disorders. In contrast, the two genes encoding the mitochondrial rRNAs (mt-rRNAs) have been studied in far less detail. This is because establishing the pathogenicity of mt-rRNA mutations is a major diagnostic challenge. Only two disease...
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