Newest genetic alteration in Autism
by Dr. Alan Kadish NMD
Another gene alteration (DIXDC1) has been found to cause issues with keeping the brain’s neural connections in an immature state. This reduces the brain’s ability to communicate effectively, resulting in autism symptoms, in some patients.
When we are young and our brains are forming connections they need to be pruned and mature to function properly. The DIXDC1 protein in some autistic children is switched off and it’s essential to signal maturation of the synapses, the interconnection between brain neurons. Keep in mind the findings of genetic changes in Autism Spectrum Disorder (ASD) patients is literally becoming a monthly experience. Unfortunately one of the key factors not addressed is the consideration of why is this taking place.
In the McMaster University study, they are suggestive for a drug potential, which is admirable but continues to fail to evaluate the root cause and how to not pass on the same issue to offspring. A modification after the gene alteration can be a lifesaver for those who are already experiencing a lack of proper maturity of their brain connections (synapses).
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McMaster scientists discover autism gene slows down brain cell communication
McMaster University Faculty of Health Sciences News, 11/13/2016
Scientists at McMaster University’s Stem Cell and Cancer Research Institute in collaboration with Sick Children’s Hospital have discovered genetic alterations in the gene , in individuals with autism spectrum disorders (ASD). This gene was found to change the way brain cells grow and communicate.
This finding, published in the journal Cell Reports, provides new insights into ASD that will guide identification of new medications for people with ASD.
The study was led by Karun Singh, a scientist with the Stem Cell and Cancer Research Institute (SCCRI) and an assistant professor of biochemistry and biomedical sciences at McMaster’s Michael G. DeGroote School of Medicine.
The researchers discovered an important ‘on’ button in DIXDC1 protein that instructs brain cells to form mature connections called synapses with other brain cells during development. Working with the leading geneticist Stephen Scherer from The Hospital for Sick Children and the University of Toronto, the team identified genetic changes that keep DIXDC1 turned “off” in a group individuals with autism, predicted to cause brain synapses to stay immature, and reduce brain activity.
“Because we pinpointed why DIXDC1 is turned off in some forms of autism, my lab at the SCCRI, which specializes in drug discovery, now has the opportunity to begin the searching for drugs that will turn DIXDC1 back on and correct synaptic connections,” said Singh. “This is exciting because such a drug would have the potential to be a new treatment for autism.”
While this discovery holds promise, mutations in DIXDC1 account for only a small number of individuals with autism and related psychiatric conditions, Singh said.
“However, there is strong evidence that many other autism genes disrupt the development of synapses similar to DIXDC1; therefore, the key to a new treatment for autism will be to find safe medications that restores brain cell synapse growth and activity.”
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