Human-Neanderthal gene variance is involved in autism

[Confounding]

Sounds like it's only a matter of time until we make a cure.

http://medicalxpress.com/news/2016-08-human-neanderthal-gene-variance-involved-inautism.html

A structure that represents the biggest known genetic difference between humans and Neanderthals also predisposes humans to autism. An international team of researchers led by UW Medicine genome scientist Evan Eichler published the findings today in Nature. The structure involves a segment of DNA on chromosome 16 that contains 28 genes. This segment is flanked by blocks of DNA whose sequences repeat over and over.

Such stretches of duplicated DNA, called copy-number variants, are common in the human genome and often contain multiple copies of genes. Although most copy-number variants seem to have no adverse effect on health, some have been linked to disease. However, when both strands of a segment of DNA are flanked by highly identical sequences, they can be susceptible to large copy-number differences, including deletion, duplication and other changes, during the process of cell division. In this case, deletion, which causes the loss of the segment's 28 genes, results in autism.

 

[zaangalewa]

Sounds like it's only a matter of time until we make a cure.

http://medicalxpress.com/news/2016-08-human-neanderthal-gene-variance-involved-inautism.html

A structure that represents the biggest known genetic difference between humans and Neanderthals also predisposes humans to autism. An international team of researchers led by UW Medicine genome scientist Evan Eichler published the findings today in Nature. The structure involves a segment of DNA on chromosome 16 that contains 28 genes. This segment is flanked by blocks of DNA whose sequences repeat over and over.

Such stretches of duplicated DNA, called copy-number variants, are common in the human genome and often contain multiple copies of genes. Although most copy-number variants seem to have no adverse effect on health, some have been linked to disease. However, when both strands of a segment of DNA are flanked by highly identical sequences, they can be susceptible to large copy-number differences, including deletion, duplication and other changes, during the process of cell division. In this case, deletion, which causes the loss of the segment's 28 genes, results in autism.

a) As far as I heard Neanderthal genes are existing in people of european and asian populations - not so in people from african populations. Does this mean Africans don't suffer autism?
b) Genes produce proteins. How produce proteins autism?
c) And what kind of autism?

 

[waltky]

Autism genes discovered...

Hundreds of Autism-linked Genes Discovered
August 10, 2016 : The causes of autism are murky, varied and complex. But researchers have taken a step forward, identifying hundreds of new genes that may play a role in the development of autism — a neurodevelopmental disorder that affects children's ability to communicate, learn and socialize.

Investigators say the genes are not necessarily a direct cause of autism, but could contribute to the condition, meaning the genes that could lead scientists toward finding a cause and, possibly, a treatment. Children with autism have trouble communicating and socializing. The condition runs the spectrum from mild awkwardness to complete social isolation, which is why it is called autism spectrum disorder or ASD. There is no cure for what has become one of the most common developmental disorders to strike young children. But early intervention, in the form of physical and behavioral therapies, has proven to be beneficial.

So far, 65 autism-risk genes have been identified, but their exact role is unknown. Investigators think there could be anywhere from 400 to 1,000 autism genes altogether. Using what they call a machine-learning computer program, researchers at Princeton University in the United States discovered 2,500 genes they believe could contribute to ASD. The new leads were published in the journal Nature Neuroscience. There are some 25,000 genes in the human body. To narrow down the genes within the vast brain circuitry that may contribute to the development of ASD, investigators looked at the huge array of connections among genes responsible for brain function.

An autistic child attends a therapy session in Beijing, China​

Arjun Krishnan, a researcher at Princeton's Lewis-Sigler Institute for Integrative Genomics, likened it to finding friends on Facebook. "And if Facebook wanted to find out who your friends are and wanted to suggest a friend for you, what they would do is find out who your friends are and then find out other people who are friends with those same people,” Krishnan said. “So that's how they give you suggestions of new friends you might know. We used a very, very similar strategy."

Krishnan says the machine-learning program identified similarities between brain-related genes and the 65 autism-risk genes, finding still other genes that are "friends" of both. In this case, 2,500 genes that may increase a person's risk for autism. It is the specific combinations of those genes that may explain why one child on the spectrum is mildly affected while another child is severely disabled, says Olga Troyanskaya, a professor of computer science and genomics at Princeton University. Discovery of a distinct pattern of gene interactions that contribute to autism might someday lead to a test diagnosing children, so they can begin therapy as early as possible.

Hundreds of Autism-linked Genes Discovered