Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

ABSTRACT: Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Here, we report that disease-causing PDE12 variants in three unrelated families are associated with mitochondrial respiratory chain deficiencies and wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic ac

SUBMITTER: Prof. Michal Minczuk 

PROVIDER: S-SCDT-10_1038-S44321-024-00172-5 | biostudies-other |

REPOSITORIES: biostudies-other