WASHINGTON, Feb. 12, 2013 /PRNewswire-USNewswire/ -- In a study featured in
the journal Neuron, researchers funded by The ALS Association have discovered
evidence of an unexpected cellular process in some people with amyotrophic
lateral sclerosis (ALS). The results should allow researchers to better track
the disease in these people and might offer a new target for developing therapy.
ALS, which is also known as Lou Gehrig's Disease, is a progressive
neurodegenerative disease that affects nerve cells in the brain and the spinal
cord. Eventually, people with ALS lose the ability to initiate and control
muscle movement, which often leads to total paralysis and death within two to
five years of diagnosis. There is no cure, and only one drug approved by the
U.S. Food and Drug Administration (FDA) modestly extends survival.
The study, conducted by Peter Ash and Kevin Bieniek under the guidance of
Leonard Petrucelli, Ph.D., of the Mayo Clinic in Jacksonville, Fla., showed
that mutations in the C9ORF72 gene cause cells to create an unusual
protein-like molecule that is not found in healthy individuals or in people with
other neurologic diseases. Mutations in the C9ORF72 gene are responsible for
between 20 percent and 40 percent of familial ALS. The mutation causes cells to
create long, repetitive chains of a cellular molecule called RNA.
The researchers found that when the cell's protein-making machinery latches on
to this repetitive RNA, it creates a protein-like chain called a RAN-translated
peptide, which the researchers have termed C9RANT. The peptide's own repetitive
structure makes it stick to itself, and the researchers found clumps of the
peptide in the brains of people who had died of ALS.
It is still unknown whether these peptides are contributing to disease or are
uninvolved in it. But in either case, they offer researchers a specific marker
for ALS caused by the C9ORF72 gene and potentially a way to measure disease
activity and response to therapy.
"This discovery highlights the complexity of the ALS disease process," said ALS
Association Chief Scientist Lucie Bruijn, Ph.D. "But it also may provide a new
window into that process and offer a way to track how neurons are responding to
treatments in this form of the disease. In that respect, this finding could be
an important step forward."
"Just as new therapies are being developed to break down the protein aggregates
associated with Alzheimer's and Parkinson's diseases, developing a therapeutic
strategy to target C9RANT aggregates may also prove beneficial," said Dr.
Petrucelli, Chair of Neuroscience.
The ALS Association provided support for this research through its Translational
Research Advancing Therapies for ALS (TREAT ALS) program, to Dr. Petrucelli and
to Kevin Boylan, M.D., also of the Mayo Clinic and also an author in this
About The ALS Association
The ALS Association is the only national non-profit organization fighting Lou
Gehrig's Disease on every front. By leading the way in global research,
providing assistance for people with ALS through a nationwide network of
chapters, coordinating multidisciplinary care through certified clinical care
centers, and fostering government partnerships, The Association builds hope and
enhances quality of life while aggressively searching for new treatments and a
cure. For more information about The ALS Association, visit our website at
SOURCE The ALS Association
Carrie Martin Munk, The ALS Association, firstname.lastname@example.org,