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'Rotor free-wheeling' in impaired F 1 F O -ATPase induces congenital hypermetabolism.
- Source :
-
Trends in endocrinology and metabolism: TEM [Trends Endocrinol Metab] 2023 Feb; Vol. 34 (2), pp. 63-65. Date of Electronic Publication: 2022 Dec 15. - Publication Year :
- 2023
-
Abstract
- A de novo heterozygous variant in the catalytic subunit of mitochondrial F <subscript>1</subscript> F <subscript>O</subscript> -ATPase has been recently discovered by Ganetzky et al. to be the main cause of an autosomal dominant syndrome of hypermetabolism associated with defective ATP production. We describe how the 'rotor free-wheeling' causes this F <subscript>1</subscript> F <subscript>O</subscript> -ATPase dysfunction in primary congenital hypothyroidism.<br />Competing Interests: Declaration of interests All authors declare no competing interests.<br /> (Copyright © 2022 Elsevier Ltd. All rights reserved.)
- Subjects :
- Humans
Adenosine Triphosphatases
Mitochondria
Subjects
Details
- Language :
- English
- ISSN :
- 1879-3061
- Volume :
- 34
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Trends in endocrinology and metabolism: TEM
- Publication Type :
- Academic Journal
- Accession number :
- 36526552
- Full Text :
- https://doi.org/10.1016/j.tem.2022.12.002