Japanese scientists find autism is related to gene variation

Autism is a mental illness of high incidence, and the incidence rate is 2%. On its pathogenesis, it is generally considered to be fetal neurological developmental disorder, but the specific mechanism has been a puzzle. In recent years, a large number of genetic mutations have been carried out in autism patients, and by using recombinant human proteins, it is found that the highest proportion of mutations is CHD8, which controls changes of chromosome structure.

Researchers at the Institute of Biological Defense Medicine, Kyushu University, Japan, have been leading the world in the research of CHD8. In a recent experiment, they found that when the genes of mouse show the same variation, there will be communication abnormalities, stubborn temper and other human autism characterization. Studies have shown that due to genetic variation, the number of proteins produced by this gene is reduced and that other proteins called “REST” are abnormally active, leading to neurodevelopmental retardation.

For CHD8 gene derived from the father or CHD8 gene from the mother in autistic patients, the phenomenon of “semi-loss”, i.e. a party gene lack happens often. The research team created mice that turning this gene into a “semi-defective” model and observed them. They found that mice showed increase of uneasiness and abnormal communication which were similar to the symptoms of human autism. The brain of the mice was analyzed, and the results showed that the activity of REST increased abnormally.

A further study of autism mice using the TransOmics system showed that a decrease in the amount of CHD8 due to genetic variation could lead to a high degree of activation of the neurotrophic protein REST, leading to neurodevelopmental delay. That is, if the amount of CHD8 is increased by the administration of human factors, or taking measures are taken to inhibit the activity of REST, it may be possible to find a way to treat autism.

The study was published in the British scientific journal Nature on the electronic version in September 2016. Flarebio offers recombinant proteins of good quality such as recombinant CDH15 at good prices.