friends of FSH Research


Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

— September 9, 2009

August 2009: Research Updates

— August 1, 2009

FSHD research continues to move forward with the generous help from the Friends of FSH Research. Dr Dan Miller at the University of Washington’s Institute for Stem Cell and Regenerative Medicine, and Dr. Stephen Tapscott at the Fred Hutchinson Cancer Research Center think that one possible cause of muscle weakness in FSHD is a defect in the generation of muscle tissue that may start before birth, and persist as muscles are continually modified and repaired throughout life.

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

— July 2, 2009

Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of FSHD

— June 1, 2009

Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, or has the full extent of transcripts from the D4Z4 region been carefully characterized.

The Beginnings of something new in FSHD Research?

— June 1, 2009

Research on the cause and treatment of facioscapulohumeral muscular dystrophy (FSHD) might be entering a new, and hopefully better, era. For many years FSHD has been a difficult disease for medical researchers to study. In most genetic diseases, a gene with some known function is mutated and no longer performs its normal biological role. To find a treatment for such a disease, the medical researcher needs to identify therapeutic interventions that will compensate for the mutant gene.