Monday November 19, 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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Lack of Proper Sanitation Affects 620 Million Children Around The World: Report

Despite the improvements, more than a third of the girls in South Asia miss school for one to three days a month during their period.

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toilets, studentsac
A new toilet recently installed in a Rohingya refugee camp in Bangladesh. VOA

A lack of proper school toilets threatens the health, education and safety of at least 620 million children around the world, the charity WaterAid said in a new study published Friday.

Children at 1 in 3 schools lack access to proper toilets, putting them at risk of diarrhea and other infections and forcing some to miss lessons altogether, according to the study, based on data from 101 countries.

Guinea-Bissau in West Africa has the worst school toilets while Ethiopian children fare worst at home, with 93 percent of homes lacking a decent toilet according to the report, released ahead of World Toilet Day on Monday.

toilets, students
Students arrive for class at the Every Nation Academy private school in the city of Makeni in Sierra Leone, April 20, 2012. VOA

“The message here is that water and sanitation affect everything,” WaterAid spokeswoman Anna France-Williams told the Thomson Reuters Foundation. “If there’s no toilet in schools, children will miss lessons and it will have an impact on their growing up.”

Diarrhea, infection risk

A lack of proper sanitation puts millions of children around the world in danger of diarrhea, which kills 289,000 children younger than 5 a year, WaterAid said.

But some regions have started to clean up their act, notably South Asia, where access to toilets in schools has improved.

More than half the schools in Bangladesh now have access to decent toilets, while students in 73 percent of schools in India and 76 percent of those in Bhutan can access basic sanitation.

Akramul Islam, director of water, sanitation and hygiene at the Bangladeshi charity BRAC, said the country’s once-high levels of open defecation — using open ground rather than toilets — were now less than 1 percent.

toilets, studentsac
India’s plight in sanitation has not improved much since ages.
Pixabay

“Today, schools have separate toilets for girls and boys and the issue of menstrual hygiene is also being addressed,” he said. “This has happened because of initiatives taken by both the government, the NGOs and other stakeholders.”

Also Read: 3 HIV+ Students Banned From School in Indonesia

Improvement needed

Despite the improvements, more than a third of the girls in South Asia miss school for one to three days a month during their period, WaterAid said, urging greater investment in basic sanitation.

“If we are serious about all children and young people, wherever they are, whatever their gender, physical ability or community background, having their right to clean water and sanitation, we must take decisive and inclusive action now,” said Chief Executive Tim Wainwright. (VOA)