The cause of a common form of muscular dystrophy detection: research team makes second critical ahead
ScienceDaily (28 October 2010) – an international research team led by an investigator Fred Hutchinson Cancer Research Center has made a second important step forward, to determine of the cause of a common form of muscular dystrophy dystrophy called musculaire facio-scapulo or FSHD.
In August 2010 released the group a landmark study one new and unifying model for the cause of the FSHD established.The actual work published in PLoS genetics, Oct. 28 shows that the disease is caused by inefficient suppression of a gene that normally only in the early development expressed performs work aimed to new approaches to therapy and new insights into human evolution.
The disease-causing gene called DUX4, had previously thought was one to be completely inactive gene in humans. DUX4 belongs to a special class of genes, called sometimes called retro own that unused by-products of evolution are usually have no remaining biological function, “dead gene.”
On the other hand, the researchers found that the DUX4 protein abundant human germ cells, the cells that form the sperm and eggs, is expressed, which a required function early in the development.Usually this is unterdrückt.Allerdings DUX4-gen in all other cells of the body makes the mutation, the FSHD causes this suppression in less efficient.
“The result is that inefficient suppression occasionally escapes the DUX4-gen and manifests itself in some muscle cells, similar to the old Faithfull geyser, which is usually out but occasionally releases a burst of water”, said corresponding author Stephen Tapscott, m.d, Ph.d., a member of the Hutchinson Center Human Biology Division.”The occasional bursts of DUX4 are toxic to the muscle cells, which leads to muscle cell death and the muscular dystrophy his thought.”
Tapscott led study in collaboration with Daniel Miller, m.d., Ph.d; at the University of Washington and co-authors Silvere van der Maarel, Ph.d; and Rabi Tawil, m.d, Leiden University Medical Center and the fields Center for FSHD and neuromuscular research at the University of Rochester, respectively.
Previously, these same investigators had shown that the reason why some people from always FSHD are protected that you have mutations in a region of DNA that is necessary to stabilize the DUX4 gene product.These new findings reaffirm the DUX4 protein in FSHD and reveal a new mechanism of human disease, inefficient suppressing a retro genes that play a role in early development hat.Diese results provide a focus for future development of therapies for FSHD.
There are wider impact of new research for the understanding of human evolution as gut.Wartung of a functional retro genes in humans indicates that there are some provided selective advantage over the course of evolution.
“” Since FSHD is characterized by excessively weak upper extremity muscles and facial muscles, we speculate that the DUX4 retro genes a regular role in the weaker and expressive facial muscles people, compared to non-human primates may cause”said Tapscott.”"If this idea is correct, this means FSHD is caused by increasing the normal role of DUX4 and caused more extreme weakness of the face and upper extremity one Muskeln.Es also means, that all people are kinda FSHD, that contribute the development of these muscles.”
The researchers have an ongoing cooperation through a Hutchinson Center-based national institutes of health FSHD program project grant, whose Tapscott is principal investigator, as well as through the fields Center for FSHD and neuromuscular research which is Tawil the Director.
“Progress through an unusual level of cooperation and the exchange of data between each group was possible,” said Tapscott.
Grants from the sections NIAMS and NINDS of the national institutes of health, the friends of FSH research, the Shaw Family Foundation and the Muscular Dystrophy Association support working by Tapscott and colleagues at the Hutchinson Center.
Other funding for this study center, the Netherlands Organisation for scientific research came from the fields scholarship granting FSH society the Netherlands genomic initiative, Marjorie Bronfman, Centro Investigación Biomedica en red para Enfermedades Neurodegenerativas, the Basque Government and the Instituto Carlos III, ILUNDAIN Fundazioa.
Editor’s note: This article is not intended, medical advice, provide diagnosis or treatment.
Story source:
The above story is from materials provided by Fred Hutchinson Cancer Research Center reprinted (with editorial adjustments by ScienceDaily staff).
Journal reference:
Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B stock, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller.La dystrophy: incomplete suppression of a Retrotransposed-gen.PLoS of genetics, 2010; DOI: 10.1371/journal.pgen.1001181
Note: If no author is specified, instead cites the source.
