Friends of FSH Research in Kirkland is proud to have provided funding, which helped to support in recent groundbreaking research.
Dr. Tapscott’s lab at the Fred Hutchinson Research Center in Seattle recently published their research findings in the journal of Developmental Cell entitled “DUX4 Activates Germline Genes, Retroelements and Immune Mediators: Implication for Facioscapulohumeral Dystrophy.”
Their groundbreaking discoveries are changing the outlook for those impacted by FSH Muscular Dystrophy, the most common form of the dystrophies.
There is now considerable evidence, much of this from the research labs that have received Friends of FSH Research funding, that DUX4 plays a pivotal role in Facioscapulohumeral Muscular Dystrophy.
The evidence strongly implicates the DUX4 gene found on the fourth chromosome for the production of a protein which is damaging to muscle cells. In an area of DNA normally shut down in healthy muscle cells, in those with FSH this region remains active thus allowing the production of this destructive protein.
In the paper, which was in the Jan. 17 print edition of the Developmental Cell, Dr. Tapscott’s lab describes their recent work identifies the elements of the genome impacted by the DUX4 protein, and explains how these interactions might be involved in the development of FSHD.
DUX4 protein is one of a number of transcription factors, transcription factors being proteins that interact with DNA to regulate activity of particular genes.
Dr. Tapscott’s lab has demonstrated that DUX4 protein interacts with many (thousands) of genes, with 70-80 genes having very strong interactions which result in inappropriate production of the protein products of these genes at abnormal levels.
One obstacle in FSHD research to this point has been that the level of DUX4 protein is so low that it is difficult to detect. The inappropriate proteins produced because of DUX4 protein interactions as a transcriptions factor, are able to be seen at much higher concentrations and as a result are much easier to detect and study.
As a result of these findings, we can now use these inappropriate proteins as biomarkers. With this knowledge, these protein products can serve as markers for the presence of harmful DUX4 protein and can be used in future research as therapies to suppress DUX4 protein production are explored.
Friends of FSH Research, founded in 2004 by a Kirkland family, is a grassroots, all-volunteer run 501(c) (3) charity. Friends of FSH Research relies upon private donations and the funds generated from its annual charity gala.
The 8th “FiSHing for a Cure” gala of the Friends will be held at the Bellevue Hyatt on Jan. 28. For more information about Friends of FSH Research, visit www.fshfriends.org or contact them at 425-827-8954.
