NEW DRUG DEVELOPED FOR SPINAL MUSCULAR ATROPHY
According to recent
studies, approximately one out of every 40 individuals in the United States is
a carrier of the gene responsible for spinal muscular atrophy (SMA), a
neurodegenerative disease that causes muscles to weaken over time. Now,
researchers at the University of Missouri have made a recent breakthrough with
the development of a new compound found to be highly effective in animal models
of the disease. In April, a patent was filed for the compound for use in SMA.
"The strategy
our lab is using to fight SMA is to 'repress the repressor,'" said Chris
Lorson, a researcher in the Bond Life Sciences Center and professor in the MU
Department of Veterinary Pathobiology. "It's a lot like reading a book,
but in this case, the final chapter of the book -- or the final exon of the
genetic sequence -- is omitted. The exciting part is that the important chapter
is still there -- and can be tricked into being read correctly, if you know how.
The new SMA therapeutic compound, anantisense
oligonucleotide, repairs expression of the gene affected by the
disease."
In individuals
affected by SMA, the spinal motor neuron-1 (SMN1) gene is mutated and lacks the
ability to process a key protein that helps muscle neurons function. Muscles in
the lower extremities are usually affected first, followed by muscles in the upper
extremities, including areas around the neck and spine.
Fortunately, humans
have a nearly identical copy gene called SMN2. Lorson's drug targets that
specific genetic sequence and allows proper "editing" of the SMN2
gene. The drug allows the SMN2 gene to bypass the defective gene and process
the protein that helps the muscle neurons function.
Lorson's
breakthrough therapeutic compound was patented in April. His research found
that the earlier the treatment can be administered in mice with SMA, the better
the outcome. In mice studies, the drug improved the survival rate by 500 to 700
percent, with a 90 percent improvement demonstrated in severe SMA cases,
according to the study.
Although there is no
cure for SMA currently, the National Institutes of Health (NIH) has listed SMA
as the neurological disease closest to finding a cure, due in part to effective
drugs like the one developed in Lorson's lab.
Lorson's study,
"Morpholino antisense oligonucleotides targeting intronic repressor
Element1 improve phenotype in SMA mouse models," was published in
September 2014 in the Journal of Human Molecular
Genetics. Graduate student Erkan Osman was the lead author. The
study was funded by a grant from the National Institutes of Health, a training
grant and a fellowship from the Howard Hughes Medical Institute.
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