Advances and Prevention Strategies for Mitochondrial Genetic Diseases Caused by the Mitochondrial DNA 8344A>G Mutation

doi:10.12280/gjszjk.20230358

Abstract

Abstract:

Mutations in mitochondrial DNA (mtDNA) may lead to a range of mitochondrial diseases that are related to the damage of the mitochondrial respiratory chain. These mitochondrial diseases are characterized by early onset, difficult-to-cure and maternal inheritance. Mutations at site 8 344 in the mitochondrial tRNA lysine gene can result in the reduced translation of the protein encoded by mtDNA and an inadequate energy supply, leading to myoclonic epilepsy associated with ragged red fiber (MERRF) syndrome, with severe myoclonic symptoms, seizures and ataxia. Another characteristic lesion is multiple symmetric lipomatosis (MSL) in the posterior neck and upper back. Among all of pathogenic mtDNA mutations, m.8344A>G mutations were accounted for about 4%. Nuclear gene modification and environmental factors may be involved in the pathogenesis of m.8344A>G mutation. At present, the specific treatment methods for MERRF are lacking. Preimplantation genetic diagnosis and mitochondrial transplantation based on assisted reproductive technology are expected to be new methods for the treatment of this kind of mitochondrial genetic diseases, but the safety and effectiveness still need to be further verified.

Key words: DNA, mitochondrial, Genes, mitochondrial, Mutation, Mitochondrial diseases, MERRF syndrome, Preimplantation diagnosis, Mitochondrial replacement

SHEN Ling-chao, WANG Xin, JI Dong-mei. Advances and Prevention Strategies for Mitochondrial Genetic Diseases Caused by the Mitochondrial DNA 8344A>G Mutation[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(6): 471-475.

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