Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy.

ABSTRACT: Disturbances in the morphology and function of mitochondria cause neurological diseases, which can affect the central and peripheral nervous system. The i-AAA protease YME1L ensures mitochondrial proteostasis and regulates mitochondrial dynamics by processing of the dynamin-like GTPase OPA1. Mutations in YME1L cause a multi-systemic mitochondriopathy associated with neurological dysfunction and mitochondrial fragmentation but pathogenic mechanisms remained enigmatic. Here, we report on striking cell-type-specific defects in mice lacking YME1L in the nervous system. YME1L-deficient mice manifest ocular dysfunction with microphthalmia and cataracts and develop deficiencies in locomotor activity due to specific degeneration of spinal cord axons, which relay proprioceptive signal

SUBMITTER: Sprenger HG 

PROVIDER: S-EPMC6328943 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature