Friday February 21, 2020

Researchers Identify 102 Genes Associated with Autism

It's critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism

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Autism
Researchers have discovered how a Genetic Alteration that increases the risk of developing Autism and Tourette's impairs brain communication. Pixabay

In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with risk for autism.

The discovery shows significant progress towards teasing apart the genes associated with autism from those associated with intellectual disability and developmental delay, conditions which often overlap.

According to the World Health Organisation (WHO), one in 160 children has an autism spectrum disorder (ASD).

ASDs begin in childhood and tend to persist into adolescence and adulthood. In most cases the conditions are apparent during the first five years of life.

“This is a landmark study, both for its size and for the large international collaborative effort it required.

“With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches,” said Joseph D Buxbaum, Director of the Seaver Autism Center for Research and Treatment at Icahn School of Medicine at Mount Sinai.

For the study published in the journal Cell, an international team of researchers from more than 50 sites collected and analyzed more than 35,000 participant samples, including nearly 12,000 with ASD, the largest autism sequencing cohort to date.

Autism
Families of children with autism face high physical, mental and emotional burdens, are sometimes ridiculed and even accused of child abuse, says a new study. Pixabay

Using an enhanced analytic framework to integrate both rare, inherited genetic mutations and those occurring spontaneously when the egg or sperm are formed, researchers identified the 102 genes associated with ASD risk.

Of those genes, 49 were also associated with other developmental delays.

The larger sample size of this study enabled the research team to increase the number of genes associated with ASD from 65 in 2015 to 102 today.

In addition to identifying subsets of the 102 ASD-associated genes, the researchers showed that ASD genes impact brain development or function and that both types of disruptions can result in autism.

“Through our genetic analyses, we discovered that it’s not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism,” said Buxbaum.

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It’s critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism.

“We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism,” the researchers noted. (IANS)

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Consumption of Soybean Oil May Affect Neurological Conditions: Study

Soybean oil diet may trigger genetic changes in brain

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Soybean oil
Soybean oil not only leads to obesity and diabetes but may also affect neurological conditions. Wikimedia Commons

Widely consumed soybean oil not only leads to obesity and diabetes but may also affect neurological conditions like autism, Alzheimer’s disease, anxiety and depression, report researchers from University of California Riverside, including one of Indian origin.

In a study conducted on mice, the scientists found pronounced effects of the soybean oil on the hypothalamus where a number of critical processes take place.

The research team discovered nearly 100 genes – including the ‘love hormone’ oxytocin produced in hypothalamus — affected by the soybean oil diet.

Soybean oil  brain
In a study conducted on mice, the scientists found pronounced effects of the soybean oil on the hypothalamus where a number of critical processes take place. Pixabay

“The hypothalamus regulates body weight via your metabolism, maintains body temperature, is critical for reproduction and physical growth as well as your response to stress,” said Margarita Curras-Collazo, an associate professor of neuroscience and lead author on the study published in the journal Endocrinology.

The research team has not yet isolated which chemicals in the oil are responsible for the changes they found in the hypothalamus.

“But they have ruled out two candidates. It is not linoleic acid, since the modified oil also produced genetic disruptions; nor is it stigmasterol, a cholesterol-like chemical found naturally in soybean oil,” the study noted.

Identifying the compounds responsible for the negative effects is an important area for the team’s future research.

“This could help design healthier dietary oils in the future,” said Poonamjot Deol, first author on the study.

“If there’s one message I want people to take away, it’s this: reduce consumption of soybean oil,” Deol added.

Soybean oil brain
Consumption of Soybean oil may lead to autism. Pixabay

The team compared mice fed three different diets high in fat: soybean oil, soybean oil modified to be low in linoleic acid, and coconut oil.

They believe this discovery could have ramifications not just for energy metabolism,but also for proper brain function and diseases such as autism or Parkinson’s disease.

“However, it is important to note there is no proof the oil causes these diseases,” the authors wrote.

Te same research team found in 2015 that soybean oil induces obesity, diabetes, insulin resistance, and fatty liver in mice. Then in a 2017 study, the same group learned that if soybean oil is engineered to be low in linoleic acid, it induces less obesity and insulin resistance.

The team said the findings only apply to soybean oil — not to other soy products or to other vegetable oils.

“Do not throw out your tofu, soymilk, edamame, or soy sauce,” said Frances Sladek, a UCR toxicologist and professor of cell biology.

“Many soy products only contain small amounts of the oil, and large amounts of healthful compounds such as essential fatty acids and proteins”.

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This study utilized male mice. Because oxytocin is so important for maternal health and promotes mother-child bonding, similar studies need to be performed using female mice.

Coconut oil, which contains saturated fats, produced very few changes in the hypothalamic genes, said the researchers. (IANS)