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Wayne State University researcher to study spinal muscular atrophy

DETROIT Graham Parker, Ph.D., assistant professor of research in the Department of Pediatrics at Wayne State University's School of Medicine, was awarded $418,000 from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health to study how a particular gene might be involved in the progression of spinal muscular atrophy (SMA) the number one genetic killer of children younger than 2 years old.

"Although most people have never heard of it, SMA is the most prevalent hereditary motor neuron disease, affecting four to 10 per 100,000 live births, with as many as one in 75 people being carriers of the genetic mutation," said Parker.

There is no cure for or treatment to slow the progression of SMA, but Parker and co-investigator Gyula Acsadi, M.D., Ph.D., associate professor of pediatrics and neurology, hope to clarify the role of alpha-synuclein (SNCA), which they believe is a potentially significant genetic biomarker of the neuromuscular disease. A better understanding of SNCA's role may help develop new therapies to treat SMA.

Spinal muscular atrophy is characterized by diseased motor neurons in the spinal cord. Typically, these motor neurons send signals to various muscles throughout the body, like those that control breathing. But in the diseased state, the neurons degenerate and die, resulting in muscle weakness of varied severity.

So, what causes the motor neurons to become diseased in the first place? "The genetic cause of SMA is well established: the lowering of survival motor neuron (SMN) protein, which exists in all cells," said Parker. "But we still have no idea why SMN loss specifically affects the motor neurons in this way."

Evidence from their previous research, however, points toward SNCA.

"Our analyses of SMN-deficient neuronal cells discovered that low levels of SMN are associated with reduced SNCA gene expression," he said. "Recent work has indicated that downregulation of SNCA can compromise the viability of neural cells."

In this study, Parker will put SNCA to the test. He aims to determine whether dramatically decreasing SNCA expression levels will mimic the motor neuron death observed under SMA conditions. He will then increase SNCA expression levels to see if this slows the progression of SMA.

Parker expects his findings to come with important implications for the discovery of new therapies. "The knowledge gained from this research is a highly desirable goal, potentially allowing us to identify more useful disease markers for future clinical trials, as well as develop new models to advance neuromuscular disease research," said Parker.


Contact: Julie O'Connor
Wayne State University - Office of the Vice President for Research

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