Why Autism is more common in boys - a brief study
Neuron supplies clues as to why autism spectrum disorder (ASD) is significantly more prevalent in boys than in women, say scientists. The researchers found that a single amino acid change from the"NLGN4" gene, which has been associated with autism symptoms, can induce this difference in some cases.
Researchers headed by Katherine Roche from the National Institutes of Health (NIH) in the US compared 2 NLGN4 genes (one in the X chromosome and one in the Y chromosome) that are essential for setting up and keeping synapses, the communication points between neurons.
Female body has two X chromosomes; men have one X and one Y chromosome.
Until now, it was assumed that the NLGN4X and NLGN4Y genes, which encode proteins that are 97 percent indistinguishable, functioned equally well in neurons.
But using an assortment of advanced technology, including biochemistry, molecular biology, and imaging programs, the study, published in the journal Neuron, discovered that the proteins encoded by these genes show different functions.
The NLGN4Y protein is not able to move to the surface in cells. It is so not able to assemble and support synapses, making it difficult for gamers to send signs to one another.
When the investigators fixed the error in cells in a dish, they restored its correct function.
"We really must look at NLGN4X and NLGN4Y more attentively. Mutations at NLGN4X may result in widespread and possibly quite acute effects in brain function, and the role of NLGNY is still uncertain," said study first writer Thien A Nguyen.
The study team decided that the problems with NLGN4Y were because of single amino acid. However, they also discovered that the area surrounding that amino acid in NLGN4X is sensitive to mutations in human inhabitants.
In females, when one of the NLGN4X genes features a mutation, another one can often compensate. However, diseases can happen in men whenever there's a mutation in NLGN4X since there is no compensation from NLGN4Y, the researcher said.
"The understanding about these proteins will help physicians treating patients with mutations in NLGN4X better understand their signs," explained Dr. Roche.
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