14 DAY TRIAL // A paper published in the latest online issue of the renowned journal Neuron indicates that a series of associations exist between genes that exhibit abnormal function in autism patients and genes targeted by a protein involved in the development of the Fragile-X Syndrome.
Investigators say that FMRP is a protein generated by the gene FMR1, whose dysfunction has been tied to the emergence of FXS. The new investigation was carried out by a team of scientists at the Cold Spring Harbor Laboratory (CSHL).
These results are extremely important, since the Fragile-X syndrome is the most common cause of inherited intellectual disability among children. Autism and other autism-spectrum disorders (ASD) also have a high incidence in the general population.
Oftentimes, FXS occurs in conjunction with autism, which is why many specialists count it as an ASD. The condition occurs when the FMR1 gene is unable to deliver its instructions to nerve cells. As a result, the latter do not manufacture the protein FMRP.
This molecule is essential for the development of neurons and synaptic plasticity in the young brain. The term synaptic plasticity refers to the ability of inter-neural connections to separate and reform according to needs.
“A surprising proportion – up to 20%– of the candidate genes we see in our sample drawn from 343 autism families appear to be regulated by FMRP,” says the co-first author of the study, CSHL research investigator Dr. Michael Ronemus.
“Because of research connecting FMRP to the phenomenon of neuroplasticity, our work indicates a possible convergence of mechanisms causing autism,” adds CSHL professor Michael Wigler, who was the senior author of the new investigation.
In addition to discovering this interesting correlation, the new investigation also revealed roughly 60 previously unidentified autism candidate genes. Researchers were also able to confirm the role of a number of other previously identified genes in autism and ASD.
The Simons Foundation and a grant from the US National Institutes of Health (NIH) provided the funds required for this investigation.