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International Research Team Closes In On Cause of Common Form of Muscular Dystrophy
Date:8/20/2010

lymorphism, necessary for FSHD that occurs near the mutation region on chromosome 4 that was discovered nearly two decades ago. In those susceptible to this form of muscular dystrophy, this DNA mutation stabilizes the product of the DUX4 gene and thus causes the gene to be more active.

"This provides a new and unifying model for FSHD because it will focus future research on determining whether the DUX4 protein causes FSHD, as indicated by our consortium's genetic analysis," Tapscott said.

Corresponding author Silvere van der Maarel, Ph.D., professor of medical epigenetics in the Department of Human Genetics at Leiden University Medical Center in the Netherlands, led the study in collaboration with Tapscott and Tawil, who is a professor of neurology and director of the Fields Center for FSHD and Neuromuscular Research, which is based at the University of Rochester and at the University of Leiden.

These researchers have an ongoing collaboration through a Hutchinson Center-based National Institutes of Health FSHD Program Project Grant, of which Tapscott is principal investigator. This paper is the second to emerge from this collaboration.

"The progress was made possible by an unusual degree of collaboration and data-sharing among the individual groups," Tapscott said.

Grants from the Friends of FSH Research, the Shaw Family Foundation and the Muscular Dystrophy Foundation also supported the work of Tapscott and colleagues at the Hutchinson Center.

Other funding for this study came from the Fields Center, the Netherlands Organization for Scientific Research, the Netherlands Genomic Initiative, the National Institutes of Health, a Marjorie Bronfman Fellowship grant from the FSH Society, the Centro Investigacion Biomedica en Red para Enfermedades Neurodegenerativas, the Basque Government and the Instituto Carlos III, ILUNDAIN Fundazioa.

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