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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| Format: | Article |
| Language: | English |
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MDPI AG
2023-10-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/12/20/2494 |
| _version_ | 1827721392821370880 |
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| author | Seongho Hong Sanghun Kim Kyoungmi Kim Hyunji Lee |
| author_facet | Seongho Hong Sanghun Kim Kyoungmi Kim Hyunji Lee |
| author_sort | Seongho Hong |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T21:21:51Z |
| format | Article |
| id | doaj.art-b15c4775d05548569aa0a443c623b156 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-10T21:21:51Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-b15c4775d05548569aa0a443c623b1562023-11-19T16:02:56ZengMDPI AGCells2073-44092023-10-011220249410.3390/cells12202494Clinical Approaches for Mitochondrial DiseasesSeongho Hong0Sanghun Kim1Kyoungmi Kim2Hyunji Lee3Korea Mouse Phenotyping Center, Seoul National University, Seoul 08826, Republic of KoreaLaboratory Animal Resource and Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Republic of KoreaDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Republic of KoreaDepartment of Medicine, Korea University College of Medicine, Seoul 02708, Republic of KoreaMitochondria 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.https://www.mdpi.com/2073-4409/12/20/2494mitochondrial diseasesmitochondrial therapyclinical trials |
| spellingShingle | Seongho Hong Sanghun Kim Kyoungmi Kim Hyunji Lee Clinical Approaches for Mitochondrial Diseases Cells mitochondrial diseases mitochondrial therapy clinical trials |
| 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 | mitochondrial diseases mitochondrial therapy clinical trials |
| url | https://www.mdpi.com/2073-4409/12/20/2494 |
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