Article
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Metabolomics : Official journal of the Metabolomic Society - 12 Jan 2021
Esterhuizen Karien, Lindeque J Zander, Mason Shayne, van der Westhuizen Francois H, Rodenburg Richard J, de Laat Paul, Smeitink Jan A M, Janssen Mirian C H, Louw Roan
Abstract excerpt
INTRODUCTION: The m.3243A > G mitochondrial DNA mutation is one of the most common mitochondrial disease-causing mutations, with a carrier rate as high as 1:400. This point mutation affects the MT-TL1 gene, ultimately affecting the oxidative phosphorylation system and the cell's energy production. Strikingly, the m.3243A > G mutation is associated with different phenotypes, including mitochondrial...
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