Clinical Approaches for Mitochondrial Diseases

被引:6
|
作者
Hong, Seongho [1 ,2 ]
Kim, Sanghun [3 ,4 ,5 ]
Kim, Kyoungmi [6 ,7 ]
Lee, Hyunji [2 ]
机构
[1] Seoul Natl Univ, Korea Mouse Phenotyping Ctr, Seoul 08826, South Korea
[2] Korea Univ, Coll Med, Dept Med, Seoul 02708, South Korea
[3] Korea Res Inst Biosci & Biotechnol, Lab Anim Resource & Res Ctr, Cheongju 28116, South Korea
[4] Chungbuk Natl Univ, Coll Vet Med, Cheongju 28644, South Korea
[5] Chungbuk Natl Univ, Res Inst Vet Med, Cheongju 28644, South Korea
[6] Korea Univ, Coll Med, Dept Biomed Sci, Seoul 02841, South Korea
[7] Korea Univ, Coll Med, Dept Physiol, Seoul 02841, South Korea
关键词
mitochondrial diseases; mitochondrial therapy; clinical trials; HEREDITARY OPTIC NEUROPATHY; LARGE-SCALE DELETIONS; RED FIBERS MERRF; MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; LEIGH-SYNDROME; TRNA(LEU(UUR)) MUTATION; HEART-FAILURE; GENE-THERAPY; POINT MUTATION;
D O I
10.3390/cells12202494
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
引用
收藏
页数:25
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