Friday April 26, 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

Avoid Smoking During Pregnancy To Prevent Premature Births

The negative health impacts of cigarette smoking during pregnancy, including low birth weight, delayed intrauterine development, pre-term birth, infant mortality, and long-term developmental delays, are well known. 

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The researcher plans to look at quit rates and smoking intensity and their impact on the risk of infant mortality. Pixabay

Expecting mothers, take note. As smoking during pregnancy is linked with negative health outcomes, a team of researchers has found that smoking cessation during pregnancy may reduce the risk of pre-term birth.

The findings, published in the JAMA Network Open journal, showed that the probability of pre-term birth decreased with earlier smoking cessation in pregnancy — up to a 20 per cent relative decrease if cessation occurred at the beginning of pregnancy.

baby
If we determine quitting, and quitting early, reduces the risk of infant mortality, then that may speak to mothers even more saliently about the importance of smoking cessation. Pixabay

“Of concern, though, given the substantial benefits of smoking cessation during pregnancy is that the proportion of pre-pregnancy smokers who quit smoking during pregnancy has remained essentially stagnant since 2011,” said lead author Samir Soneji from The Dartmouth Institute for Health Policy and Clinical Practice in the US.

For the study, the researchers conducted a cross-sectional study of more than 25 million pregnant women who gave birth to live neonates during a six-year period — measuring their smoking frequency three months prior to pregnancy and for each trimester during pregnancy.

The negative health impacts of cigarette smoking during pregnancy, including low birth weight, delayed intrauterine development, pre-term birth, infant mortality, and long-term developmental delays, are well known.

But the good news is that the proportion of women who start their pregnancy as smokers has been declining in recent years, the researchers said.

smoking

The findings, published in the JAMA Network Open journal, showed that the probability of pre-term birth decreased with earlier smoking cessation in pregnancy — up to a 20 per cent relative decrease if cessation occurred at the beginning of pregnancy. Pixabay

However, the study also found that only about 25 per cent of women who smoked prior to pregnancy were able to quit throughout their pregnancy, and approximately 50 per cent of women who smoked during their pregnancy did so with high frequency (more than 10 cigarettes per day).

The researcher plans to look at quit rates and smoking intensity and their impact on the risk of infant mortality.

Also Read: How Netflix Binge-Watching Can Lead You The “Mean World Syndrome”

“Thankfully most premature babies end up doing well,” he said.

“But premature birth is strongly linked to infant mortality. If we determine quitting, and quitting early, reduces the risk of infant mortality, then that may speak to mothers even more saliently about the importance of smoking cessation,” he added. (IANS)