PCOM Researcher Lands NIH Grant October 24, 2017
Kennedy’s Disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare
genetic disorder which causes the death of nerve cells in the spinal cord, as well
as muscles that control voluntary movement. Roughly 1 in 40,000 worldwide has Kennedy’s
Disease, and it can severely affect quality of life through symptoms such as muscle
tremors and cramping. Patients also suffer difficulty swallowing and speaking, and
eventually become non-ambulatory.
There is currently no cure or effective therapy for the disease, but Heather Montie, PhD, assistant professor of neuroscience, physiology and pharmacology, is hoping to change
that. Thanks to a new, $151,000 grant from the National Institutes of Health, Dr.
Montie and her team will spend the next two years creating a preclinical research
model using zebrafish, which will hopefully help drive research in SBMA and eventually,
help lead to a therapy for patients.
“In the zebrafish model, the disease will likely develop in a way similar to how it
develops in humans,” explains Dr. Montie. “This model is more cost-effective than
other models, and with it, data can also be generated more quickly.”
Dr. Montie knows first-hand the need for an effective treatment for Kennedy’s Disease;
her father passed away from the disease in 2011, two of her uncles are also suffering
from the disease, and she has two nephews at risk. As a result, Dr. Montie’s lab has
been focused on better understanding the molecular pathways that cause the disease,
in order to develop therapeutic interventions.
The mutation responsible for the disease occurs in the androgen receptor gene on the
X-chromosome. The disease only affects males (who have only one X chromosome), where
one mutated copy of the gene is found in each cell. That mutation, coupled with male
hormones that bind the androgen receptor, causes the condition. Women can also be
carriers—Dr. Montie is one—but they usually only suffer minor muscle cramps.
“We want to move the field of research forward more quickly,” said Dr. Montie. “We
can do this by developing this model, sharing it with other researchers and encouraging
collaboration, with the ultimate goal of developing an effective therapeutic for men
with Kennedy’s Disease.”
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