Spinal muscular atrophy therapy possible

COLD SPRING HARBOR, N.Y., Nov. 5 (UPI) -- U.S. medical scientists say a molecule related to the common antibiotic tetracycline might be useful in treating spinal muscular atrophy.

A research collaboration involving scientists from the Cold Spring Harbor Laboratory, Paratek Pharmaceuticals and the Rosalind Franklin University of Medicine and Science said the disease, which is currently incurable, is the leading genetic cause of death in infants.

Spinal muscular atrophy is caused by mutations in a gene called SMN1, resulting in a decrease in the levels of a protein in the motor neurons of the spinal cord -- the cells that control muscle activity. Without the protein, the researchers said, neurons degenerate and infants born with the mutations progressively lose their ability to move, swallow and breathe.

The scientists said their new molecule boosts the levels of the SMN1 protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing. The researchers said they successfully created such a fix in both mouse models of spinal muscular atrophy, as well as in cells isolated from patients.

The study is reported in the journal Science Translational Medicine.