Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.

Autor: Pecina P; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Čunátová K; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Kaplanová V; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Puertas-Frias G; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Šilhavý J; Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Tauchmannová K; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Vrbacký M; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Čajka T; Laboratory of Translational Metabolism, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Gahura O; Institute of Parasitology, Biology Centre, Czech Academy of Sciences, České Budějovice, Czech Republic., Hlaváčková M; Laboratory of Developmental Cardiology, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Pravenec M; Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Houštěk J; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic., Mráček T; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic. tomas.mracek@fgu.cas.cz., Pecinová A; Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic. alena.pecinova@fgu.cas.cz.
Jazyk: angličtina
Zdroj: Communications biology [Commun Biol] 2024 Sep 11; Vol. 7 (1), pp. 1116. Date of Electronic Publication: 2024 Sep 11.
DOI: 10.1038/s42003-024-06819-w
Abstrakt: Metabolic syndrome is a growing concern in developed societies and due to its polygenic nature, the genetic component is only slowly being elucidated. Common mitochondrial DNA sequence variants have been associated with symptoms of metabolic syndrome and may, therefore, be relevant players in the genetics of metabolic syndrome. We investigate the effect of mitochondrial sequence variation on the metabolic phenotype in conplastic rat strains with identical nuclear but unique mitochondrial genomes, challenged by high-fat diet. We find that the variation in mitochondrial rRNA sequence represents risk factor in the insulin resistance development, which is associated with diacylglycerols accumulation, induced by tissue-specific reduction of the oxidative capacity. These metabolic perturbations stem from the 12S rRNA sequence variation affecting mitochondrial ribosome assembly and translation. Our work demonstrates that physiological variation in mitochondrial rRNA might represent a relevant underlying factor in the progression of metabolic syndrome.
(© 2024. The Author(s).)
Databáze: MEDLINE
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