Friday February 21, 2020

Gene Responsible For Autism Identified

Many neurodevelopmental disorders are caused by large missing pieces of genetic material in a person's genome that contains several genes, termed a "microdeletion"

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Autism: A Neurological Disease. Image Source: www.americanhealthreview.com
  • Scientists found the gene responsible for Autism
  • The study reveals a lot about other complex brain disorders
  • The study can be used to find some cure for autism

Scientists, including one of Indian-origin, have identified a gene that is responsible for neurodevelopmental disorders, including autism, an advance that may pave the way for developing treatments.

The findings showed that alterations of the gene thousand and one amino-acid kinase 2, known as TAOK2, plays a direct role in these disorders.

Gene responsible for autism found. VOA
Gene responsible for autism found. VOA

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”.

Accurately diagnosing a gene microdeletion helps doctors to predict patient outcome and to determine if a new treatment is available, the study showed.

Also Read: Wearable Technology Google Glass Teaches Children with Autism Spectrum Disorder (ASD)

“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.

In the study, published in the journal Molecular Psychiatry, the team used genetically engineered models and computer algorithms to study a human genome, which allowed them to pinpoint the single gene in question.

Research can be used to benefit children suffering from autism. www.autismepicenter.com
Research can be used to benefit children suffering from autism. www.autismepicenter.com

The results revealed that alterations in TAOK2 activity contribute to neurodevelopmental disorders. TAOK2 KO mice showed several behavioural, anatomical and synaptic deficits consistent with other autistic mouse models.

Moreover, the team also identified and characterised novel mutations in TAOK2 in human autism cohorts revealing that the mutations impact different signalling pathways.

Also Read: Bacterial infection in pregnancy may up autism risk in kids

“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,” Singh said. IANS

Next Story

Fat Around Arteries May Help Keep Blood Vessels Healthy: Study

Fat around arteries proven to be good for health as said by health researchers.

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Arteries
Fat around our arteries may play an important role in keeping those blood vessels healthy. (Representational Image). Pixabay

Researchers have found that fat around our arteries may play an important role in keeping those blood vessels healthy. This is a new health news.

The fat, known as perivascular adipose tissue, or PVAT, helps arteries do what scientists call “stress relax,” or let go of muscular tension while under constant strain.

This is similar to the bladder, which expands to accommodate more liquid while at the same time keeping it from spilling out.

“In our study, PVAT reduced the tension that blood vessels experience when stretched, and that’s a good thing, because the vessel then expends less energy. It’s not under as much stress,” said study researchers Stephanie Watts from Michigan State University in the US.

The findings, published in the journal Scientific Reports, could affect how researchers test for treatments related to plaque buildup in our arteries, or atherosclerosis, an issue that can often lead to a heart attack, which is currently a leading cause of death in the US.

What made the finding so exciting, Watts said, is that PVAT has largely been ignored by researchers who have thought its main job was to store lipids and do little more.

Arteries
The fat, known as perivascular adipose tissue, or PVAT, helps arteries do what scientists call “stress relax,” or let go of muscular tension while under constant strain. (Representational Image). Pixabay

Right now, scientists only divide blood vessels into three parts, the innermost layer called the tunica intima, the middle layer called the tunica media and the outermost layer called the tunica adventitia.

Watts would like scientists to recognise PVAT as the fourth layer, which others have called tunica adiposa – tunica means a membranous sheath enveloping or lining an organ and adiposa is a synonym for fat.

Other investigators have shown that PVAT plays a role in the functioning of blood vessels, finding that it secretes substances that can cause blood vessels to relax as well as substances that can cause it to contract.

But Watts and her colleagues wanted to test whether PVAT itself, rather than the substances it secretes, might play a role in how blood vessels perform. So, they decided to test whether PVAT provides a structural benefit to arteries by assisting the function of stress relaxation.

To do that, they tested the thoracic aorta in rats and found those with intact PVAT had more stress relaxation than those without. “My mind was blown,” Watts said when she saw that the pieces with surrounding fat had measurably relaxed more than those without.

Also Read- Here’s why You Should Start Drinking Tart Cherry Juice

The research team also tested other arteries and were able to duplicate the same response.

“So, this tells us, it’s not just a one off, it’s not something you see only in this particular vessel or this particular species or this particular strain. But that maybe it’s a general phenomenon,” Watts added.