Spinal muscular atrophy: Helping nerve fibers find their way
Vector (Children’s Hospital Boston) | June 17, 2011 | By Nancy Fliesler
Spinal muscular atrophy is sometimes referred to as a “Lou Gehrig’s disease of babies.” About 1 in 40 people carry the defective gene for this untreatable recessive disease, which causes progressive muscle degeneration and is the leading genetic killer of infants and toddlers. Affected children have weak, floppy legs and arms and must go on ventilators, too weak to breathe on their own.
Researchers have had some success in mouse models of spinal muscular atrophy by adding back SMN, the protein that’s missing or abnormal, or getting the mice to produce more of it. The mice live longer, and do seem to have stronger muscles. But not so in human clinical trials to date.
Looking for another approach, Mustafa Sahin in Children’s Neurobiology Program asked a simple question: What does SMN do? Spinal muscular atrophy is a disease of motor neurons in the spinal cord, which tell the muscles to contract. So Sahin teamed up with Judith Steen (who directs the hospital’s Proteomics Core) and ran some neurons through mass spectrometry to find out, first of all, what proteins it keeps company with.
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