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Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations
Mitochondria are important organelles whose primary role is generating energy through the oxidative phosphorylation (OXPHOS) system. Cardiomyopathy, a common clinical disorder, is frequently associated with pathogenic mutations in nuclear and mitochondrial genes. To date, a growing number of nuclear...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9657367/ https://www.ncbi.nlm.nih.gov/pubmed/36362661 http://dx.doi.org/10.3390/jcm11216431 |
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author | Ding, Yu Gao, Beibei Huang, Jinyu |
author_facet | Ding, Yu Gao, Beibei Huang, Jinyu |
author_sort | Ding, Yu |
collection | PubMed |
description | Mitochondria are important organelles whose primary role is generating energy through the oxidative phosphorylation (OXPHOS) system. Cardiomyopathy, a common clinical disorder, is frequently associated with pathogenic mutations in nuclear and mitochondrial genes. To date, a growing number of nuclear gene mutations have been linked with cardiomyopathy; however, knowledge about mitochondrial tRNAs (mt-tRNAs) mutations in this disease remain inadequately understood. In fact, defects in mt-tRNA metabolism caused by pathogenic mutations may influence the functioning of the OXPHOS complexes, thereby impairing mitochondrial translation, which plays a critical role in the predisposition of this disease. In this review, we summarize some basic knowledge about tRNA biology, including its structure and function relations, modification, CCA-addition, and tRNA import into mitochondria. Furthermore, a variety of molecular mechanisms underlying tRNA mutations that cause mitochondrial dysfunctions are also discussed in this article. |
format | Online Article Text |
id | pubmed-9657367 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96573672022-11-15 Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations Ding, Yu Gao, Beibei Huang, Jinyu J Clin Med Review Mitochondria are important organelles whose primary role is generating energy through the oxidative phosphorylation (OXPHOS) system. Cardiomyopathy, a common clinical disorder, is frequently associated with pathogenic mutations in nuclear and mitochondrial genes. To date, a growing number of nuclear gene mutations have been linked with cardiomyopathy; however, knowledge about mitochondrial tRNAs (mt-tRNAs) mutations in this disease remain inadequately understood. In fact, defects in mt-tRNA metabolism caused by pathogenic mutations may influence the functioning of the OXPHOS complexes, thereby impairing mitochondrial translation, which plays a critical role in the predisposition of this disease. In this review, we summarize some basic knowledge about tRNA biology, including its structure and function relations, modification, CCA-addition, and tRNA import into mitochondria. Furthermore, a variety of molecular mechanisms underlying tRNA mutations that cause mitochondrial dysfunctions are also discussed in this article. MDPI 2022-10-30 /pmc/articles/PMC9657367/ /pubmed/36362661 http://dx.doi.org/10.3390/jcm11216431 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Ding, Yu Gao, Beibei Huang, Jinyu Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title | Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title_full | Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title_fullStr | Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title_full_unstemmed | Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title_short | Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations |
title_sort | mitochondrial cardiomyopathy: the roles of mt-trna mutations |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9657367/ https://www.ncbi.nlm.nih.gov/pubmed/36362661 http://dx.doi.org/10.3390/jcm11216431 |
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