Article
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.
The Biochemical journal - 1 Nov 2004
Jesina Pavel, Tesarová Markéta, Fornůsková Daniela, Vojtísková Alena, Pecina Petr, Kaplanová Vilma, Hansíková Hana, Zeman Jirí, Houstek Josef
Abstract excerpt
Dysfunction of mitochondrial ATPase (F1F(o)-ATP synthase) due to missense mutations in ATP6 [mtDNA (mitochondrial DNA)-encoded subunit a] is a frequent cause of severe mitochondrial encephalomyopathies. We have investigated a rare mtDNA mutation, i.e. a 2 bp deletion of TA at positions 9205 and 9206 (9205DeltaTA), which affects the STOP codon of the ATP6 gene and the cleavage site between the RNAs for ATP6 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.