标题：Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype

中文标题：致病线粒体脱氧核糖核酸3243A > G 突变: 从遗传到表型

引用信息：Li D, Liang C, Zhang T, Marley JL, Zou W, Lian M, Ji D. Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype. Front Genet. 2022 Oct 6;13:951185. doi: 10.3389/fgene.2022.951185. PMID: 36276941; PMCID: PMC9582660.

摘要：The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms, and phenotypes. In recent years, the prevention of mtDNA-related diseases has trended toward precision medicine strategies, such as preimplantation genetic diagnosis (PGD) and mitochondrial replacement therapy (MRT). These techniques are set to allow the birth of healthy children, but clinical implementation relies on thorough insights into mtDNA genetics. The genotype and phenotype of m.3243A>G vary greatly from mother to offspring, which compromises genetic counseling for the disease. This review is the first to systematically elaborate on the characteristics of the m.3243A>G mutation, from genetics to phenotype and the relationship between them, as well as the related influencing factors and potential strategies for preventing disease. These perceptions will provide clarity for clinicians providing genetic counseling to m.3243A>G patients.

中文摘要：线粒体脱氧核糖核酸变异(mtDNA) m. 3243A > G 突变是最常见的致病性 mtDNA 变异之一，显示出复杂的遗传学、致病性分子机制和表型。近年来，线粒体 DNA 相关疾病的预防趋向于精准医学治疗，如胚胎植入前遗传筛选(PGD)和线粒体替代疗法(MRT)。这些技术被设置为允许健康儿童的出生，但临床实施依赖于对线粒体 DNA 遗传学的深入了解。M. 3243A > G 的基因型和表型因母亲和后代的不同而有很大差异，这影响了疾病的遗传咨询。本文首次系统阐述了 m. 3243A > G 突变的遗传学和表型特征及其相互关系，以及相关的影响因素和预防策略。这些观点将为临床医生提供对 m.3243A > g 患者的遗传咨询提供清晰的认识。

原文链接：

https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.951185/full