Article
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2023
Erdinc Direnis, Macao Bertil, Valenzuela Sebastian, Lesko Nicole, Naess Karin, Peter Bradley, Bruhn Helene, Wedell Anna, Wredenberg Anna, Falkenberg Maria
Abstract excerpt
Mutations in the catalytic domain of mitochondrial DNA polymerase γ (POLγ) cause a broad spectrum of clinical conditions. POLγ mutations impair mitochondrial DNA replication, thereby causing deletions and/or depletion of mitochondrial DNA, which in turn impair biogenesis of the oxidative phosphorylation system. We here identify a patient with a homozygous p.F907I mutation in POLγ, manifesting a severe clinical...
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