The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder

ABSTRACT: Peroxisomal Biogenesis Disorders (PBDs) are genetic disorders of peroxisome biogenesis and metabolism that are characterized by profound developmental and neurological phenotypes. The most severe class of PBDs-Zellweger Spectrum Disorder (ZSD)-is caused by mutations in peroxin genes that result in both non-functional peroxisomes and mitochondrial dysfunction. It is unclear, however, how defective peroxisomes contribute to mitochondrial impairment. In order to understand the molecular basis of this inter-organellar relationship, we investigated the fate of peroxisomal mRNAs and proteins in ZSD model systems. We found that peroxins were still expressed and a subset of them accumulated on the mitochondrial membrane, which resulted in gross mitochondrial abnormalities and impaired mitochondria

SUBMITTER: Dr. Esther Nuebel 

PROVIDER: S-SCDT-EMBOR-2020-51991-T | biostudies-other |

REPOSITORIES: biostudies-other