080210xf's Blog

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

Archive for April, 2010

Senator Hollingsworth hosts 5th annual Fragile X Awareness Day 4.20.10

Toute la conférence de presse est disponble ici (page Facebook du Mind Institute, CA, USA) | Full conference available here (Mind Institute Facebook page, CA, USA)

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“This is a very exciting period in fragile X research,” said Dr. Hagerman. “We are conducting clinical trials of potential new targeted treatments, or medications, for many of the features of fragile X, including the social and cognitive deficits.”

Sommaire (version texte) / Summary (text version)

Protein partners may provide insight into inherited mental retardation

ScienceDaily (Apr. 27, 2010) — A new study that uncovers a pathway critical for proper embryological development in zebra fish may also reveal a parallel mechanism that drives wiring of the vertebrate brain. The research, published by Cell Press in the April 23 issue of the journal Molecular Cell provides intriguing insight into the complex signaling mechanisms of fragile-X proteins.

Fragile-X syndrome (FXS), the most common cause of inherited mental retardation, arises from mutations in the fragile X mental retardation (FMR) gene. This FMR1 protein, and the closely related FXR1 protein, both have multiple regions that bind mRNAs (molecules that are critical for the synthesis of new proteins). One such region is a conserved KH2 domain that has long been suspected to also bind proteins and, when mutated, inactivates the entire FMR1 protein.