A recessive Trim2 mutation causes an axonal neuropathy in mice.

ABSTRACT: We analyzed Trim2^A/A mice, generated by CRISPR-Cas9, which have a recessive, null mutation of Trim2. Trim2^A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that contain mitochondria and neurofilaments. In the PNS, there is a loss of myelinated axons, particularly in the most distal nerves. The pathologically affected neuronal populations - primary sensory and motor neurons as well as cerebellar Purkinje cells - express TRIM2, suggesting that loss of TRIM2 in these neurons results in cell autonomous effects on their axons. In contrast, these pathological findings were not found in a second strain of Tr

SUBMITTER: Li JJ 

PROVIDER: S-EPMC12340668 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature