080210xf's Blog

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

Fragile X Culprit Fails to Keep Protein Production Under Control

New laboratory studies indicate that the neurological problems caused by Fragile X syndrome, the most common form of inherited intellectual disability, may be due to excess synthesis of certain neuronal proteins that must be present at exactly the right time and place for an individual to learn.

In patients with Fragile X syndrome, which affects approximately one in 5,000 males and half that number of females worldwide, mutations in the gene encoding the Fragile X mental retardation protein (FMRP) can cause cognitive dysfunction and facial abnormalities, among other symptoms. The majority of children with Fragile X syndrome also exhibit behaviors typically associated with autism.

“This work closes a loop between molecular biology and human cognition.”

Robert B. Darnell

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