080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

New drug rescues function in fragile X syndrome

Deborah Rudacille, Sfari.org |

A new drug appears to relieve symptoms of fragile X syndrome by blocking the over-production of a key protein in a subset of people with the disorder, according to a 6 January study in Science Translational Medicine1.

Fragile X syndrome, an inherited form of mental retardation with features of autism, is caused by a mutation in the FMR1 gene. Some individuals with fragile X have the full mutation, which shuts down production of the protein, FMRP, needed to form healthy connections between neurons. Others have a partial mutation, which spares some FMRP production.

FMRP acts as a brake on components of the mGluR5 pathway, which run riot in individuals with the full mutation, leading to severe symptoms of the disorder. The new study shows that the drug AFQ056, made by Swiss pharmaceutical giant Novartis, blocks production of mGluR5, lessening the severity of symptoms in individuals with the full mutation. Individuals with partial mutations show more variable results.

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