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Clinical Approaches for Mitochondrial Diseases

Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ‘oxidative phosphorylation (OX PHOS)’, which are expres...

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Detalles Bibliográficos
Autores principales: Hong, Seongho, Kim, Sanghun, Kim, Kyoungmi, Lee, Hyunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605124/
https://www.ncbi.nlm.nih.gov/pubmed/37887337
http://dx.doi.org/10.3390/cells12202494
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author Hong, Seongho
Kim, Sanghun
Kim, Kyoungmi
Lee, Hyunji
author_facet Hong, Seongho
Kim, Sanghun
Kim, Kyoungmi
Lee, Hyunji
author_sort Hong, Seongho
collection PubMed
description Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ‘oxidative phosphorylation (OX PHOS)’, which are expressed by the mitochondria’s self-contained DNA. Mitochondrial DNA (mtDNA) also encodes 2 rRNA and 22 tRNA species. Mitochondrial DNA replicates almost autonomously, independent of the nucleus, and its heredity follows a non-Mendelian pattern, exclusively passing from mother to children. Numerous studies have identified mtDNA mutation-related genetic diseases. The consequences of various types of mtDNA mutations, including insertions, deletions, and single base-pair mutations, are studied to reveal their relationship to mitochondrial diseases. Most mitochondrial diseases exhibit fatal symptoms, leading to ongoing therapeutic research with diverse approaches such as stimulating the defective OXPHOS system, mitochondrial replacement, and allotropic expression of defective enzymes. This review provides detailed information on two topics: (1) mitochondrial diseases caused by mtDNA mutations, and (2) the mechanisms of current treatments for mitochondrial diseases and clinical trials.
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spelling pubmed-106051242023-10-28 Clinical Approaches for Mitochondrial Diseases Hong, Seongho Kim, Sanghun Kim, Kyoungmi Lee, Hyunji Cells Review Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ‘oxidative phosphorylation (OX PHOS)’, which are expressed by the mitochondria’s self-contained DNA. Mitochondrial DNA (mtDNA) also encodes 2 rRNA and 22 tRNA species. Mitochondrial DNA replicates almost autonomously, independent of the nucleus, and its heredity follows a non-Mendelian pattern, exclusively passing from mother to children. Numerous studies have identified mtDNA mutation-related genetic diseases. The consequences of various types of mtDNA mutations, including insertions, deletions, and single base-pair mutations, are studied to reveal their relationship to mitochondrial diseases. Most mitochondrial diseases exhibit fatal symptoms, leading to ongoing therapeutic research with diverse approaches such as stimulating the defective OXPHOS system, mitochondrial replacement, and allotropic expression of defective enzymes. This review provides detailed information on two topics: (1) mitochondrial diseases caused by mtDNA mutations, and (2) the mechanisms of current treatments for mitochondrial diseases and clinical trials. MDPI 2023-10-20 /pmc/articles/PMC10605124/ /pubmed/37887337 http://dx.doi.org/10.3390/cells12202494 Text en © 2023 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
Hong, Seongho
Kim, Sanghun
Kim, Kyoungmi
Lee, Hyunji
Clinical Approaches for Mitochondrial Diseases
title Clinical Approaches for Mitochondrial Diseases
title_full Clinical Approaches for Mitochondrial Diseases
title_fullStr Clinical Approaches for Mitochondrial Diseases
title_full_unstemmed Clinical Approaches for Mitochondrial Diseases
title_short Clinical Approaches for Mitochondrial Diseases
title_sort clinical approaches for mitochondrial diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605124/
https://www.ncbi.nlm.nih.gov/pubmed/37887337
http://dx.doi.org/10.3390/cells12202494
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