Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success.
Dongmei JiNing ZhangWeiwei ZouZhikang ZhangJordan Lee MarleyZhuoli LiuChunmei LiangLingchao ShenYajing LiuDan LiangTianhong SuYinan DuYunxia CaoPublished in: Journal of assisted reproduction and genetics (2023)
We have established models that can determine the symptomatic thresholds of common mtDNA pathogenic variants. We also constructed universal models applicable to nearly all mtDNA pathogenic variants which can predict risk and minimum numbers for PGT patients. These models have advanced our understanding of mtDNA disease pathogenesis and will enable more effective prevention of disease transmission using PGT.