Researchers at McMaster University have identified a gene that is responsible for neurodevelopmental disorders, including autism.
The findings showed that an alteration of the gene thousand and one amino-acid kinase 2, known as TAOK2, plays a direct role in these disorders.
TAOK2 is located in the autism spectrum disorder and schizophrenia-associated chromosomal deletion region and is associated with other neurodevelopmental phenotypes.
Many neurodevelopmental disorders are caused by large missing pieces of genetic material in a person’s genome that contain several genes, termed a “microdeletion”.
The researchers used genetically engineered models and computer algorithms to study a human genome, which allowed them to pinpoint the single gene in question.
The results revealed that alterations in TAOK2 activity contribute to neurodevelopmental disorders, including autism.
Moreover, the team also identified and characterized novel mutations in TAOK2 in human autism cohorts revealing that the mutations impact different signalling pathways.
“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,” said Karun Singh, assistant professor at McMaster University in Canada.
“This is exciting because it focuses our research effort on the individual gene, saving us time and money as it will speed up the development of targeted therapeutics to this gene alone,” Singh added.
“Our next step is to screen candidate drugs that correct the cognitive brain deficits caused by genetic mutations in TAOK2, and identify candidates for pilot clinical trials,” said Singh.
This is the first comprehensive study that supports previous research on gene microdeletion published in American Journal of Human Genetics, suggesting the involvement of this gene.
Accurately diagnosing a gene microdeletion helps doctors to predict patient outcome and to determine if a new treatment is available. The study was published in the journal Molecular Psychiatry.