A person carrying variants of two particular genes could
be almost three times more likely to develop multiple sclerosis, according to
the latest findings from scientists at The University of Texas Medical Branch
at Galveston
and Duke University Medical Center.
One of these variants is in IL7R, a gene previously
associated with MS, and the other in DDX39B, a gene not previously connected to
the disease.
The discovery could open the way to the development of
more accurate tests to identify those at greatest risk of MS, and possibly
other autoimmune disorders, the researchers said.
The findings are published in the latest issue of Cell.
A disease in which the body’s own immune system attacks
nerve cells in the spinal cord and brain, MS is a major cause of neurological
disease in younger adults, from 20 to 50 years of age, and disproportionally
affects women. While treatable, there is no cure for MS, which can lead to
problems with vision, muscle control, balance, basic body functions, among
other symptoms, and could lead to disability.
Available treatments have adverse side effects as they
focus on slowing the progression of the disease through suppression of the
immune system.
Thanks to the collaboration between scientists at UTMB,
Duke, University of California, Berkeley, and Case Western Reserve University,
researchers found that when two particular DNA variants in the DDX39B and IL7R
genes are present in a person’s genetic code, their interaction can lead to an
over production of a protein, sIL7R. That protein’s interactions with the
body’s immune system plays an important, but not completely understood, role in
MS.
“Our study identifies an interaction with a known MS risk
gene to unlock a new MS candidate gene, and in doing so, open up a novel mechanism
that is associated with the risk of multiple sclerosis and other autoimmune
diseases,” said Simon Gregory, director of Genomics and Epigenetics at the Duke
Molecular Physiology Institute at Duke University Medical Center and co-lead
author of the paper in Cell.
This new information has potentially important
applications.
“We can use this information at hand to craft tests that
could allow earlier and more accurate diagnoses of multiple sclerosis, and
uncover new avenues to expand the therapeutic toolkit to fight MS, and perhaps
other autoimmune disorders,” said Gaddiel Galarza-Muñoz, first author on the
study and postdoctoral fellow at UTMB.
It can sometimes take years before an MS patient is
properly diagnosed allowing the diseases to progress and resulting in further
damage to the nervous system before treatment begins.
With more accurate measures of risk, health care
providers would be able to screen individuals with family histories of MS or
with other suspicious symptoms. It could lead those with certain genotypes to
be more vigilant.
“One could envision how this type of knowledge will
someday lead to diagnose multiple sclerosis sooner and, now that we have
promising therapies, a doctor could start the appropriate treatment more
quickly. It is not out the realm of possibility to imagine a path for screening
for other autoimmune diseases such as Type 1 Diabetes,” said Dr. Mariano
Garcia-Blanco, Professor and Chair of the department of biochemistry and
molecular biology at UTMB, and co-lead author of the paper.
For Garcia-Blanco the fight against MS is personal. He
was already working on research related to MS when in 2012 he found out his
daughter, then in her late 20s, had been diagnosed with the disease.
Garcia-Blanco said this refocused his efforts on his MS related work.
“I’m much more aware now of how the work we do in the lab
could someday lead to something that can be used to help those who have to live
with MS”, Garcia-Blanco said.
Other study authors include Farren B.S. Briggs, Irina
Evsyukova, Geraldine Schott-Lerner, Edward M. Kennedy, Tinashe Nyanhete,
Liuyang Wang, Laura Bergamaschi, Steven G. Widen, Georgia D. Tomaras, Dennis C.
Ko, Shelton S. Bradrick and Lisa F. Barcellos.
The research was supported by the National Institutes of
Health, National MS Society Pilot Award, Duke University Whitehead Scholarship,
Ruth and A. Morris Williams Faculty Research Prize funds from Duke University
School of Medicine, start-up funds from UTMB and funds from Mr. Herman Stone
and family for MS research.
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