Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1^E321G.

ABSTRACT: Myosinopathies are defined as a group of muscle disorders characterized by mutations in genes encoding myosin heavy chains. Their exact molecular and cellular mechanisms remain unclear. In the present study, we have focused our attention on a MYH1-related E321G amino acid substitution within the head region of the type IIx skeletal myosin heavy chain, associated with clinical signs of atrophy, inflammation and/or profound rhabdomyolysis, known as equine myosin heavy chain myopathy. We performed Mant-ATP chase experiments together with force measurements on isolated IIx myofibres from control horses (MYH1^E321G-/-) and Quarter Horses homozygous (MYH1^E321G+/+) or heterozygous (MYH1^E321G+/-) for the E321G mutation. The single residue

SUBMITTER: Ochala J 

PROVIDER: S-EPMC8699922 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature