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Research reveals the role of SMN protein in spinal muscular atrophy

View:304 Time:2017-02-15

Spinal muscular atrophy, which is the leading genetic cause of early childhood lethality, is a disease that affects motor neurons in the spinal cord. The disease is caused by alterations in the SMN1 gene, which codes for SMN, a protein that is believed to help process RNA. RNA processing is important for all cells in the body. It remains a mystery why SMN reduction affects motor neurons first.

Now a study published in Cell Reports provides an answer. The study, conducted by the Emory University School of Medicine (EUSM) researchers, reveals that SMN promotes the interaction between the RNA molecule and the transport protein. Motor neurons have long axons, and RNA must be transported to the end of the axons for the cells to survive and function properly. The finding that SMN facilitates the transport of RNA helps explain why motor neurons are much more vulnerable to SMN deficiency.

Spinal muscular atrophy is characterized by symmetrical muscular weakness and atrophy of limb and trunk muscles due to synaptic defects in the motor neurons and a dying-back axonopathy. When a person has spinal muscular atrophy, there's a breakdown of the motor neurons in the brain and spinal cord. As the neurons die, the muscles weaken. The person will have trouble walking, crawling, breathing and swallowing, and may eventually die of respiratory distress.

The devastating disease is caused by reduced SMN protein levels. SMN is ubiquitously expressed in all tissues and vital for normal cellular function. Earlier studies in mice have shown that complete loss of SMN leads to early embryonic lethality. In patients with spinal muscular atrophy, cells produce reduced levels of normal SMN protein because of either a deletion or mutation in the SMN1 gene. However, the mechanism underlying the higher sensitivity of motor neurons to reduced SMN protein levels is not fully understood.

For this work, EUSM researchers found that SMN appears to be a molecular chaperone. Specifically, SMN helps RNA hook up with processing and transport proteins. Using several biochemical and advanced imaging methods, they demonstrated that SMN promotes the molecular interaction between a transport protein and the 3′ UTR zipcode region of a test RNA.

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