Monday June 18, 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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Breast cells may behave menace by High Vitamin D

Higher levels of Vitamin D among women

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High vitamin D harming Breast Cancer, Pixabay

Higher levels of Vitamin D among women may reduce their risk of developing breast cancer post menopause, claimed a new study.

The study found that women with blood levels of serum 25-hydroxyvitamin D (OH) — the main form of vitamin D in blood — above 60 ng/ml (nanograms per millilitre) had one-fifth the risk of breast cancer compared to those with less than 20 ng/ml.

 Vitamin D levels in blood were measured during study visits.
Higher levels of Vitamin D among women may reduce their risk of developing breast cancer post menopause, pixabay

Thus, researchers from the University of California-San Diego determined that the minimum healthy level of 25(OH) in blood plasma should be 60 ng/ml, instead of the earlier recommended higher than the 20 ng/ml.

“Increasing Vitamin D blood levels substantially above 20 ng/ml appears to be important for the prevention of breast cancer,” said lead author Sharon McDonnell from GrassrootsHealth, a non-profit public health research organisation.

Also Read: British researchers discover a protein that can control spread of breast cancer in body

The study, published in the journal PLOS ONE, analysed data from two randomised clinical trials with 3,325 combined women and a prospective study involving 1,713 women with average age of 63.

Participants were free of cancer at enrollment and were followed for a mean period of four years. Vitamin D levels in blood were measured during study visits.

“This study was limited to postmenopausal breast cancer. Further research is needed on whether high 25(OH)D levels might prevent premenopausal breast cancer,” said Cedric F. Garland from UC-San Diego. (IANS.)

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