Wednesday January 23, 2019

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

Protein Identified Enables New Drugs to Increase ‘Good Cholesterol’ Levels

Importantly, ORP2 could also be targeted to fight cancer. 

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ORP2 could offer a new strategic line of research and possibly succeed where the use of statins in this area hasn't, Yang noted.

Researchers have identified a protein, known as ORP2, responsible for transporting cholesterol inside cells that opens the way for new drugs to increase the body’s ‘good cholesterol’ levels.

ORP2 can increase the amount of cholesterol in cells, a process called cholesterol efflux. We think this pathway will be very important for the development of a drug to increase this good cholesterol, said Rob Yang, Professor from the University of New South Wales in Australia.

Until now, drugs including statins have targeted bad cholesterol (LDL) by inhibiting its synthesis in the liver in an effort to mitigate the risk of heart disease and stroke.

However, while statins are effective at lowering LDL levels, they do little to increase the levels of good cholesterol (HDL) and there is no other drug in use that can significantly boost the human body’s HDL levels.

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Researchers have identified a protein, known as ORP2, responsible for transporting cholesterol inside cells that opens the way for new drugs to increase the body’s ‘good cholesterol’ levels. . VOA

Up to 90 per cent of a cell’s cholesterol is found at the cell’s plasma membrane, said the study published in the journal Molecular Cell.

“Knowing the molecules that deliver cholesterol to the plasma membrane itself is a huge step forward. The transport of cholesterol to the plasma membrane is the key to the generation of HDL.

If such a drug could be developed, it would not replace statins, but would be used complementarily, with one drug used to reduce the bad cholesterol and the other to increase levels of the good, Yang suggested.

Also Read: Number of Students Opting for Science or Tech Are On Rise in India

Importantly, ORP2 could also be targeted to fight cancer.

Cancer, U.S.

Importantly, ORP2 could also be targeted to fight cancer.

The rampant and uncontrolled growth of cells that characterises cancer could be stopped in its tracks by reducing the amount of cholesterol produced.

ORP2 could offer a new strategic line of research and possibly succeed where the use of statins in this area hasn’t, Yang noted. (IANS)