080210xf's Blog

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

Fragile X protein found to regulate key autism candidates

Deborah Rudacille, Sfari.org |

FMRP, the protein missing in fragile X syndrome, regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published last week inCell1. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.

Fragile X syndrome is an inherited form of mental retardation caused by a full or partial loss of function of the FMR1 gene on the X chromosome. It is twice as prevalent in males as in females. About one-third of individuals with the syndrome show features of autism, including trouble interacting with others, maintaining eye contact and learning to speak.

Studies have shown that mice lacking FMRP, or fragile X mental retardation protein, have immature dendritic spines, the neuronal branches that receive signals from other cells2,3, and too little of some synaptic proteins4.

The new study shows that FMRP regulates these synaptic proteins by blocking the action of ribosomes. Ribosomes are cellular structures that translate messenger RNA (mRNA), the transcript of genetic information, into protein. FMRP acts like a brake on this process, limiting the amount of protein produced by its targets.

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