080210xf's Blog

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

Fragile X mice have shortage of synaptic proteins

Virginia Hughes, Sfari.org |

The brains of young mice with fragile X syndrome show a dearth of two proteins that are important at the synapse, the junction between neurons, researchers reported Tuesday at the Society for Neuroscience annual meeting in San Diego.

Fragile X syndrome is a single-gene disorder that causes mental retardation and, often, autism. Jason Dictenberg’s team at Hunter College in New York showed that after being stimulated, neurons in fragile X mutants do not make a protein called postsynaptic density-95 or PSD-95, which is important for organizing other proteins at the synapse. The animals also make low levels of neuroligin-1 (NLGN1), a protein that interacts with PSD-95 and helps form excitatory synapses.

PSD-95 and the neuroligin family of proteins have been linked to autism and related disorders, suggesting that synaptic abnormalities underlie the overlap of symptoms, the researchers say.

“In the broad spectrum of autism, in all of these disorders, you have trouble with the synapse,” says Valerie Drouet, a postdoctoral fellow in Dictenberg’s lab.

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