AsianScientist (Jun. 10, 2013) – An international team of scientists has discovered a gene linked to a muscle disease so severe that newborn babies rarely survive beyond a few days.
The research effort, published in The American Journal of Human Genetics and coordinated by the Western Australian Institute for Medical Research (WAIMR), identified 19 mutations in the KLHL40 gene that result in an inherited condition known as nemaline myopathy.
As the study expanded, researchers around the world studied DNA samples from families in countries including Japan, Vietnam, France, Turkey, Italy, Israel, and Sweden.
The KLHL40 gene, which plays a major role in muscle development and function, causes 20 percent of cases within a particularly severe version of the disease. Babies with the gene mutation had severe muscle weakness allowing little movement within the womb, as well as fractures, respiratory failure, and swallowing difficulties at birth.
“I’ve wanted to find these genes since 1996, so it’s a fantastic step forward,” said UWA Winthrop Professor Nigel Laing, head of the WAIMR’s Laboratory for Molecular Genetics. “Even 17 years ago we felt this disease was a different level of severity of nemaline myopathy so it was likely to be a different group of muscle proteins involved. After years of work, that has turned out to be the case.”
Laing said that the information can now be used by doctors around the world for prenatal and pre-implantation screening for prospective parents with a family history or symptoms during pregnancy.
Mutations found in the gene were modeled in zebrafish both in Japan and at Monash University in Melbourne so researchers could learn more about the way the KLHL40 mutations affected muscle development and function.
The team and collaborators are now working to find more of the genes responsible for this severe type of nemaline myopathy.
The article can be found at: Ravenscroft G et al. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy.
——
Source: UWA; Photo: Microbe World/Flickr/CC.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.
#Australia #Genetics #Japan #Kanagawa Children’s Medical Center #Monash University #National Center of Neurology and Psychiatry Japan #National Research Institute of Fisheries Science Japan #Nemaline Myopathy #Odawara Municipal Hospital #Royal Children's Hospital #Royal Perth Hospital #University of Western Australia #Western Australian Institute for Medical Research #Yokohama City University
