Sunday, April 8, 2018

Researchers pinpoint gene responsible for neurodevelopmental disorders, including autism

Researchers at McMaster University have pinpointed genes that are correlated with neurodevelopmental disorders, that include autism. Karun Singh, researcher, and co-author at Mcmaster stem cell and cancer research institute said:"Our studies reveal that in complex brain disorders that have a loss of many genes, a single deleted gene is sufficient to cause symptoms for the patients".

The gene Thousand and one amino-acid kinase 2 (TAOK2) has been found to play a vital role in these kinds of disorders. This research was conducted on mice and human cells, where behavior analysis using TAOK2 heterozygous (Het) and knockout (KO) mice. Finding that "three de novo mutations in TAOK2 all hindered protein stability, but
but they differentially impact kinase activity, dendrite growth, and spine/synapse development."

Data that was gathered showed evidence that the neurodevelopmental disorder risk gene was "TAOK2 and that a signaling RhoA as the mediator of TAOK2 dependent synaptic development." Singh stated that the next step was to figure out drugs that corrected cognitive brain deficits that was caused by TAOK2 and finding people for clinical trials.

For more in depth click LINK 1 and LINK2. (references)

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