Thursday December 12, 2019

Researchers Find Multiple Genes to Blame for Risk of Asthma, Eczema

All three diseases arise through a complex association among several genes and also with environmental and lifestyle factors, researchers said

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Researchers have found a total of 141 regions in our genetic material that largely explain the genetic risk underlying asthma, hay fever and eczema. As many as 41 of the genes identified have not previously been linked to an elevated risk for these diseases.

The study, published in the journal Human Molecular Genetics, shows that the risk of developing asthma, hay fever or eczema is affected by genes, environment and lifestyle factors.

It was also noted that many patients diagnosed with one of these diseases also develop the other two at some stage in life.

“The findings are helping us to reach a greater understanding of why certain individuals are at higher risk of developing asthma and allergies and we hope the results will be put to use both in clinical diagnostics and in drug development,” said study lead author Weronica Ek from Uppsala University.

For the study, researchers analysed self-reported data from 350,000 participants. Millions of gene positions were tested for their effect on people’s risk of being diagnosed with asthma, hay fever and eczema.

Shame, Guilt, Asthma
It is not just respiratory symptoms or a feeling of tiredness that asthma sufferers have to face daily, many of them even have to deal with shame and a sense of guilt using inhalers at work. Pixabay

The 41 new genetic finds were also tested in an independent group of individuals comprising 110,000 people.

This testing verified that most of these new genetic variants have an effect on the individual’s risk of developing disease.

The study showed that a large number of the genes identified entail a raised risk for all three diseases. This, in turn, shows that the elevated risk of suffering from allergy when asthma is diagnosed or the elevated risk of asthma when allergy is diagnosed, seems to be largely due to genetic factors.

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The study was also able to identify several genes that boost the risk of one of these diseases in relation to the others, which demonstrates that a number of more disease-specific effects also exist.

All three diseases arise through a complex association among several genes and also with environmental and lifestyle factors, researchers said. (IANS)

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Genetic Alteration Can Increase Risk of Developing Autism and Tourette’s Syndrome

Some researchers also found that the ability of the Thalamic brain regions to communicate with other brain areas was impaired by the genetic deletion

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Genetic
Genetic deletion disrupts a brain area known as the Thalamus, compromising its ability to communicate with other brain areas. Pixabay

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

People with a genetic deletion known as chromosome 2p16.3 deletion often experience developmental delay and have learning difficulties.

They are also around 15 times more likely to develop Autism and 20 times more likely to develop Tourette’s Syndrome, but the mechanisms involved are not completely understood.

Using brain imaging studies, neuroscientists showed that deletion of the gene impacted by 2p16.3 deletion (Neurexin1) have impacts on the function of brain regions involved in both conditions.

This genetic deletion disrupts a brain area known as the Thalamus, compromising its ability to communicate with other brain areas, said the study published in the journal Cerebral Cortex.

“We currently have a very poor understanding of how the 2p16.3 deletion dramatically increases the risk of developing these disorders,” said lead researcher Neil Dawson of Lancaster University in Britain.

“However, we know that the 2p16.3 deletion involves deletion of the Neurexin1 gene, a gene that makes a protein responsible for allowing neurons to communicate effectively,” Dawson said.

Deletion of the Neurexin1 gene affects brain areas involved in Autism and Tourette’s including the Thalamus, a collection of brain regions that play a key role in helping other brain areas communicate with each other.

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

Changes were also found in brain regions involved in processing sensory information and in learning and memory.

Importantly, the researchers also found that the ability of the Thalamic brain regions to communicate with other brain areas was impaired by the genetic deletion.

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They then tested the ability of a low dose of the drug Ketamine, which is used clinically at higher doses as an anesthetic, to normalise the alterations in brain function induced by genetic deletion.

“Intriguingly our data suggest that Ketamine can restore some aspects of the brain dysfunction that results from 2p16.3 deletion and suggests that ketamine, or other related drugs, may be useful in treating some of the symptoms seen in autism and Tourette’s,” Dawson said. (IANS)