Enzyme replacement therapy shows promising results in X-linked myotubular myopathy

A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy from 4s3 Bioscience.

The findings are published in the January edition of Human and .

X-linked myotubular myopathy (XLMTM) is a severe muscle disease caused by an absence of a protein called myotubularin. There is currently no treatment for this disorder, and most patients die in infancy or childhood. The overall incidence of myotubular myopathy is 1 in 50,000 live .

Michael W. Lawlor, M.D., Ph.D., assistant professor of pathology at MCW, researcher at the Children's Hospital of Wisconsin Research Institute, and director of the pediatric pathology neuromuscular laboratory in MCW's division of pediatric pathology, coordinated a study at Boston Children's Hospital and MCW that used targeted to deliver myotubularin to muscles of mice with XLMTM. After two weeks of treatment, the mice showed marked improvement in muscle function and pathology.

"These promising findings suggest that even low levels of myotubularin protein replacement can not only improve weakness in patients, but also at least partially reverse the structural abnormalities seen in XLMTM," said Dr. Lawlor. "The next step is to determine appropriate dosage, and toxicity, before we venture into human trials," he continued.

More information: http://hmg.oxfordjournals.org/content/early/2013/01/09/hmg.ddt003.full.pdf+html

add to favorites email to friend print save as pdf

Related Stories

Potential therapy for congenital muscular dystrophy

Dec 30, 2008

Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a ...

Recommended for you

Diagnostic criteria for Christianson Syndrome

Jul 21, 2014

Because the severe autism-like condition Christianson Syndrome was only first reported in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information ...

New technique maps life's effects on our DNA

Jul 20, 2014

Researchers at the BBSRC-funded Babraham Institute, in collaboration with the Wellcome Trust Sanger Institute Single Cell Genomics Centre, have developed a powerful new single-cell technique to help investigate how the environment ...

User comments