Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.

ABSTRACT: Inherited deficiency in ether lipids, a subgroup of phospholipids whose biosynthesis needs peroxisomes, causes the fatal human disorder rhizomelic chondrodysplasia punctata. The exact roles of ether lipids in the mammalian organism and, therefore, the molecular mechanisms underlying the disease are still largely enigmatic. Here, we used glyceronephosphate O-acyltransferase knockout (Gnpat KO) mice to study the consequences of complete inactivation of ether lipid biosynthesis and documented substantial deficits in motor performance and muscle strength of these mice. We hypothesized that, probably in addition to previously described cerebellar abnormalities and myelination defects in the peripheral nervous system, an impairment of neuromuscular transmission contributes to the compromised mot

SUBMITTER: Dorninger F 

PROVIDER: S-EPMC5725694 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature