Researchers pinpoint gene responsible for neurodevelopmental disorders, including autism

March 5, 2018, McMaster University
Karun Singh, study co-author and researcher with McMaster's Stem Cell and Cancer Research Institute. Credit: McMaster University

A study led by researchers at McMaster University has pinpointed a gene that is responsible for neurodevelopmental disorders, including autism.

Researchers found alterations of the gene thousand and one amino-acid kinase 2, known as TAOK2, plays a direct role in these disorders. This is the first comprehensive study that supports previous research suggesting the involvement of this gene.

The study was published in Molecular Psychiatry.

"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, study co-author and researcher with McMaster's Stem Cell and Cancer Research Institute.

"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."

Many are caused by large missing pieces of genetic material in a person's genome that contain several , termed a 'microdeletion'. Accurately diagnosing a gene microdeletion helps doctors to predict patient outcome and to determine if a new treatment is available.

The researchers used genetically engineered models and computer algorithms to study a human genome, which allowed them to pinpoint the single gene in question.

"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, who also holds the David Braley Chair in Human Stem Cell Research and is an assistant professor in biochemistry and biomedical sciences at McMaster.

The paper complements a study led by Singh on gene microdeletion published in American Journal of Human Genetics in early February.

"The investment into the Braley Chair for Dr. Singh and his development of key collaborations is building in multiple directions beyond what we initially imagined," said Mick Bhatia, director of McMaster's Stem Cell and Cancer Research Institute. "The combination of patient specific genetics and stem cell technologies is likely to be transformative in the near term for brain ."

Explore further: Researchers identify gene largely accounting for 15q13.3 microdeletion syndrome

More information: Melanie Richter et al. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling, Molecular Psychiatry (2018). DOI: 10.1038/s41380-018-0025-5

Related Stories

Researchers identify gene largely accounting for 15q13.3 microdeletion syndrome

February 2, 2018
Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six ...

Scientists discover autism gene slows down brain cell communication

November 8, 2016
Scientists at McMaster University's Stem Cell and Cancer Research Institute in collaboration with Sick Children's Hospital have discovered an important 'on' button in DIXDC1 protein that instructs brain cells to form mature ...

New genes discovered regulating brain metastases in lung cancer

August 8, 2017
Research from McMaster University has identified new regulators of brain metastases in patients with lung cancer.

Innovative genetic and cellular techniques help identify multiple disease targets

November 12, 2017
Research released today highlights advances in the use of CRISPR-Cas9 and human induced pluripotent stem cell technologies to identify novel therapeutic targets for neurological disorders such as schizophrenia and addiction. ...

The coming of age of gene therapy: A review of the past and path forward

January 11, 2018
After three decades of hopes tempered by setbacks, gene therapy—the process of treating a disease by modifying a person's DNA—is no longer the future of medicine, but is part of the present-day clinical treatment toolkit. ...

Study sheds light on genetic overlap between major psychiatric disorders

February 8, 2018
Most medical disorders have well-defined physical characteristics seen in tissues, organs and bodily fluids. Psychiatric disorders, in contrast, are not defined by such pathology, but rather by behavior.

Recommended for you

RNA thought to spread cancer shows ability to suppress breast cancer metastasis

October 22, 2018
Researchers at The University of Texas MD Anderson Cancer Center have discovered that a form of RNA called metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) appears to suppress breast cancer metastasis in mice, ...

New tool gives deeper understanding of glioblastoma

October 22, 2018
Researchers in the lab of Charles Danko at the Baker Institute for Animal Health have developed a new tool to study genetic "switches" active in glioblastoma tumors that drive growth of the cancer. In a new paper in Nature ...

Researchers find common genetic link in lung ailments

October 22, 2018
An international research team led by members of the University of Colorado School of Medicine faculty has identified a genetic connection between rheumatoid arthritis-associated interstitial lung disease and idiopathic pulmonary ...

A single missing gene leads to miscarriage

October 19, 2018
A single gene from the mother plays such a crucial role in the development of the placenta that its dysfunction leads to miscarriages. Researchers from the Medical Faculty of Ruhr-Universität Bochum (RUB) have observed this ...

Making gene therapy delivery safer and more efficient

October 18, 2018
Viral vectors used to deliver gene therapies undergo spontaneous changes during manufacturing which affects their structure and function, found researchers from the Perelman School of Medicine at the University of Pennsylvania ...

Student develops microfluidics device to help scientists identify early genetic markers of cancer

October 16, 2018
As anyone who has played "Where's Waldo" knows, searching for a single item in a landscape filled with a mélange of characters and objects can be a challenge. Chrissy O'Keefe, a Ph.D. student in the Department of Biomedical ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.