Ontology highlight
ABSTRACT:
SUBMITTER: Ganetzky RD
PROVIDER: S-EPMC9754853 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Ganetzky Rebecca D RD Markhard Andrew L AL Yee Irene I Clever Sheila S Cahill Alan A Shah Hardik H Grabarek Zenon Z To Tsz-Leung TL Mootha Vamsi K VK
The New England journal of medicine 20221001 15
We describe the case of identical twin boys who presented with low body weight despite excessive caloric intake. An evaluation of their fibroblasts showed elevated oxygen consumption and decreased mitochondrial membrane potential. Exome analysis revealed a de novo heterozygous variant in <i>ATP5F1B</i>, which encodes the β subunit of mitochondrial ATP synthase (also called complex V). In yeast, mutations affecting the same region loosen coupling between the proton motive force and ATP synthesis, ...[more]