Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus.

ABSTRACT: Eukaryotic cells maintain proteostasis through mechanisms that require cytoplasmic and mitochondrial translation. Genetic defects affecting cytoplasmic translation perturb synapse development, neurotransmission, and are causative of neurodevelopmental disorders, such as Fragile X syndrome. In contrast, there is little indication that mitochondrial proteostasis, either in the form of mitochondrial protein translation and/or degradation, is required for synapse development and function. Here we focus on two genes deleted in a recurrent copy number variation causing neurodevelopmental disorders, the 22q11.2 microdeletion syndrome. We demonstrate that SLC25A1 and MRPL40, two genes present in the microdeleted segment and whose products localize to mitochondria, interact and are necessary for mi

SUBMITTER: Gokhale A 

PROVIDER: S-EPMC8336702 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature