Tuesday September 25, 2018

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
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  • 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

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HIV Diagnose In The LGBTQ Community Goes Down In Australia: Study

The declines were attributed to higher coverage of HIV testing and treatment in the country -- two important strategies.

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Queensland, HIV
FILE - A dead tree stands near a water tank in a drought-stricken paddock located on the outskirts of the southwestern Queensland town of Cunnamulla in outback Australia, Aug. 10, 2017. (VOA)

HIV diagnoses in Australia have hit a five-year low, with a significant drop among homosexual and bisexual men, latest figures from a major study released on Monday said.

“The good news from the report is there’s been a seven per cent decline in HIV diagnoses in the past five years, with 953 diagnoses in 2017, which compares to over 1,000 in previous years,” Professor Rebecca Guy from the University of New South Wales said here

“What’s interesting this year is the decline has not been equal across all populations,” she said.

HIV
School girls light candles in the shape of a ribbon during a HIV/AIDS awareness campaign ahead of World Aids Day, in Ahmedabad, India, Nov. 30, 2016. (VOA)

The figures involving heterosexuals have increased by 10 per cent in the last five years, Xinhua news agency reported. While those among indigenous population were also twice those of the non-indigenous ones.

The declines were attributed to higher coverage of HIV testing and treatment in the country — two important strategies, she added.

Also Read: Queensland in Australia To Combat Diseases And Deaths Caused By Climate-Change

“The key message is, for people living with HIV, increasing tendency for more frequent testing must become “an established norm”, Associate Professor Limin Mao added. (IANS)

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