The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.

ABSTRACT: Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also causing occipital horn syndrome, and distal motor neuropathy. A 65 year old male presenting with brachial amyotrophic diplegia and diagnosed with amyotrophic lateral sclerosis (ALS) was found to harbor a p.Met1311Val (M1311V) substitution variant in ATP7A. ALS is a fatal neurodegenerative disease associated with progressive muscle weakness, synaptic deficits and degeneration of upper and lower motor neurons. To investigate the potential contribution of the ATP7A^M1311V variant to neurodegeneration, we obtained and characterized both patie

SUBMITTER: Bakkar N 

PROVIDER: S-EPMC9676097 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature