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Spinal muscular atrophy: Helping nerve fibers find their way

Replacing the missing SMN protein seems to strengthen muscles in mice -- but not in human trials. Now, a closer look at SMN's function offers up new leads for drug discovery.

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 and Judith Steen in Children’s F.M. Kirby Neurobiology Center asked a simple question: What does SMN do?

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