Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.

ABSTRACT: Mutations in mitochondrial-related genes underlie numerous neurodegenerative diseases, yet the significance of most variants remains uncertain concerning disease phenotypes. Several thousand genes have been shown to regulate mitochondria in eukaryotic cells, but which of these genes are necessary for proper mitochondrial function and dynamics? We investigated the degree of morphological disruptions in mitochondrial gene-silenced cells to understand the genetic contribution to the expected mitochondrial phenotype and to identify potentially pathogenic variants like pathogenic mutations in MFN2. We analyzed 5835 gRNAs in a high dimensional phenotypic dataset produced by the image-based pooled analysis platform Raft-Seq. Using the MFN2-mutant cell phenotype, we identified several genes, inclu

SUBMITTER: Kremitzki C 

PROVIDER: S-EPMC12316947 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature