Autism is associated with duplication or triplication of UBE3A, says study

Autism is a disease that unfortunately knows no bounds. It is something that is widely-unknown, and something that many people have a difficult time coping with. While there have been a tremendous number of breakthroughs in the medical community, none have really addressed the problems that come along with autism. Most notably, none of the research to this point have given a definitive answer as to “where” autism comes from, or what specifically causes autism.

Doctors and medical researchers alike have said that there are certain factors at play, which cause autism to be more predominant in certain people. However, there is something else entirely to be said about how specifically it is formed. In this case, the new research, which was recently published in the science journal called Cell – finally specified.

To this pint, the problem has been that there are as many as 1000 genes in question that could potentially cause autism. The scientists and researchers haven’t been able to specify which ones are causing the illness, but now it would appear as though a single cell mutation is the problem that scientists can focus on correcting. The team involved at UNC linked the single cell mutation to autism, which gives scientists an entirely new perspective on combatting the disease.

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Mark Zylka, the study author pointed out that, “There’s a revolution that’s taking place in the area of autism genetics right now.” He went on to point out that, “From these sequencing studies, thousands of mutations have been turning up in hundreds of genes, and this mutation is one of those mutations.” However, it wasn’t just finding the gene mutations as a whole, which caused the overall problem. He went on to point out that specifically, the researchers are now looking at one particular cell and gene.

UBE3A is at the core of the problem. Zylka went on to point out that, “It’s sort of like if you have garbage and you want to get rid of it, you can tag it with a flag for somebody to pick it up and throw it out. That’s essentially what UBE3A does.” UBE3A goes overboard, and it slowly creates autism within the body.

This single issue is one that scientists believe can be corrected, and if so, autism could potentially be stopped dead in its tracks. This would be an incredibly impressive accomplishment, and one that would do tremendous things for the medical community as a whole, which desperately needs answers in this particular space.


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