Spinal muscular atrophy may be caused by synaptic abnormalities

Written by Jonathan Wilkinson

Researchers from Columbia University Medical Center (NY, USA) have published a study reporting that spinal muscular atrophy (SMA) may be partly caused by abnormalities in the synapses that connect sensory and motor neurons. The study, published in Nature Neuroscience, also showed that increasing the activity of these synapses can alleviate symptoms of SMA. SMA is a neurodegenerative disease caused by mutations in the SMN1 gene. These mutations lead to a deficiency of SMN protein in cells, including spinal motor neurons, which stimulate the body’s muscles to contract. Low levels of SMN protein lead to the dysfunction and death of motor...

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