Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.

ABSTRACT: Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding slow/β-cardiac myosin heavy chain also cause skeletal muscle disease with or without cardiac involvement. Mutations within the α-helical rod domain of MYH7 are mainly associated with Laing distal myopathy. To investigate the mechanisms underlying the pathology of the recurrent causative MYH7 mutation (K1729del), we have developed a Drosophila melanogaster model of Laing distal myopathy by genomic engineering of the Drosophila Mhc locus. Homozygous Mhc^K1728del animals die during larval/pupal stages, and both homozygous and heterozygous larvae display reduced muscle function. Flies expressin

SUBMITTER: Dahl-Halvarsson M 

PROVIDER: S-EPMC6048496 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature