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Spinal Muscular Atrophy: New Clues to Cause and Treatment

CUMC NEWSROOM
May 15, 2017

"New York, NY (May 15, 2017)Spinal muscular atrophy (SMA), a neurodegenerative disease that causes progressive muscle wasting and paralysis, may be partly due to abnormalities in the synapses that connect sensory neurons and motor neurons, according to researchers at Columbia University Medical Center (CUMC). Their study, conducted in mice, also showed that increasing the activity of these synapses alone can alleviate symptoms of SMA.

The findings were published online today in the journal Nature Neuroscience.

SMA is triggered by mutations in a gene called SMN1 (Survival Motor Neuron 1), causing a deficiency of SMN protein in all cells—including spinal motor neurons, which stimulate the body’s muscles to contract. Low levels of this protein lead to the dysfunction and death of motor neurons, beginning as early as infancy and occasionally during adulthood. 'Researchers have long thought that if we can fix these diseased neurons, we’ll be able to fix the disease,' said study leader George Z. Mentis, PhD, associate professor of pathology & cell biology and of neurology, and a member of the Motor Neuron Center and the Columbia Translational Neuroscience Initiative at Columbia. 'But rescuing these neurons in mouse models of SMA has not helped much, suggesting that other cells, and perhaps other neurons, are involved.'" [read more]