Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

ABSTRACT: Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first described of a growing list of conditions caused by mutations in proteins implicated in membrane trafficking. To advance the understanding of myotubularin function and disease pathogenesis, we have created a zebrafish model of myotubular myopathy using morpholino antisense technology. Zebrafish with reduced levels of myotubularin have significantly impaired motor function and obvious histopathologic changes in their muscle. These changes include abnormally shaped and positioned nuclei and myofiber hypo

SUBMITTER: Dowling JJ 

PROVIDER: S-EPMC2631153 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature