Genes may not explain autism performed in the family

Brenda Goodman, Massachusetts
WebMD Health News

Review by Brunilda Nazario, MD

January 26, 2015-Scientists looking for the genetic roots of autism have found something amazing. In families where two children are diagnosed with a disorder, siblings rarely share the same genetic changes.

The new study fits into a larger study that suggests that the genetics of autism are not yet fully understood. Also, even if it occurs in the family, it may not usually be inherited.

Instead, other factors, such as a shared environment and general condition during pregnancy, make children with autistic brothers and sisters seven times more likely to develop their own condition than children with autism. It may explain the high reason. General population.

It is everyone’s guess what exactly the risks shared are.

“This is still a million dollar issue,” says Dr. Stephen Scheller. He is the director of the Center for Applied Genomics at Hospital for Chic Children and the lead author of journalized studies. Nature medicine..

Details of the study

Researchers have also discovered some interesting new clues about the biological causes of disorders that appear to be increasing in the United States, affecting 1 in 68 children.

For this study, they sequenced all genes in the parents and children of 85 families in which two children were diagnosed with autism.

They found genetic changes known to be associated with autism in 36 (or just under half) of the affected families.

Of the 36 families in which the cause of autism can lead to specific genetic changes, only 11 sets of siblings share the same changes, and only 10 sets (or less than one-third) of those changes from their parents. I received it.

In two-thirds of those families, there is at least one different genetic change between siblings. “So they have their own form of autism,” says Scheller.

And siblings who did not share the same “risk gene” tended to have autism that looked very different, with various problems and challenges. For example, one brother or sister may not be able to speak or communicate, while the other may have near-normal language development.

“When doctors looking at children hear it, I don’t think they’re so surprised because they actually see variability, even among siblings,” says Scheller.

Scherer states that the whole-genome approach has also revealed some new risk points. A change in a gene called THRA affects the thyroid gland. Another group of mutations, called Lo-F, is associated with hearing and hearing loss.

“I was immediately excited when I saw this, because it makes sense for some children not to react or interact because they are deaf.” Scheller says.

The question remains

Previous studies have shown that only about 10% of cases of autism can be explained by a penetrating gene, a gene that almost always leads to the same symptoms or disease.

However, most cases of autism appear to be rooted in about 150 genetic changes, which by themselves are too weak to cause symptoms. Dr. Charis Eng says it only matters if there is a combination of changes that can lead a person to a condition like illness or autism. She is the chair of the Institute for Genomic Medicine at the Cleveland Clinic, Ohio. She was not involved in the study.

Eng can have different genes between siblings, but they can affect the same biological processes (eg, how the brain processes sound) and ultimately cause autism. It states that it has sex.

And she says that some common environmental factors, such as exposure to chemicals, can cause autism in children with some weak “risk genes.” However, so many different families have been studied that it seems unlikely that it is the same factor in all cases.

Another expert is that the real value of the new study shows that we still don’t know about the condition and how children get it.

“This study confirms that there are many different ways to reach the behavior we call autism,” says Dr. Chris Gunter. She is the Deputy Director of Research at the Marcus Autism Center in Atlanta. She was not involved in the study.

“Maybe what we call autism is an oversized label,” she says.

The data from this study will be added to a major program called the MSSNG Project, a collaboration between Google and Autism Speaks, a nonprofit advocate. The goal of this project is to sequence the genomes of 10,000 families with autism and make the data freely available to researchers around the world.

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Source: Dr. Stephen Scheller, Director of Applied Genomics Center, Sick Children Hospital, Toronto, Canada. Charis Eng, MD, PhD, Chair, Genomic Medicine Institute, Lerner Institute, Cleveland Clinic, Cleveland, Ohio. Dr. Chris Gunter, Deputy Director of Research at the Marcus Autism Center in Atlanta. Scherer, S. Nature Medicine, January 26, 2015.

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Genes may not explain autism performed in the family

Source link Genes may not explain autism performed in the family

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