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Drug candidate for treating spinal muscular atrophy identified
5 Nov 2009, 1358 Hrs

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Washington, Nov 5 Scientists have identified a chemical cousin of the common antibiotic tetracycline that might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants.

The finding is based on a study conducted by Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory (CSHL) and scientists from Paratek Pharmaceuticals and Rosalind Franklin University of Medicine and Science.

SMA is caused by mutations in a gene called Survival of Motor Neuron 1 (SMN1), resulting in a decrease in the levels of SMN protein in the motor neurons of the spinal cord - the cells that control muscle activity.

Without the protein, these neurons degenerate, and infants born with the mutations progressively lose the ability to move, swallow, and breathe.

There are no approved therapies for the treatment of SMA.

The new molecule boosts the levels of SMN protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing.

In the study, the scientists report this fix in both mouse models of SMA, as well as in cells isolated from SMA patients.

Unlike previously identified molecules that stimulate SMN production, the tetracycline-like compound is a unique therapeutic candidate in that it is a small molecule that specifically alters RNA splicing by directly targeting the splicing reaction.

The research appears in the journal Science Translational Medicine. (ANI)




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candidate
treating
spinal
muscular
atrophy
identified


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