Succeeded in identifying genes that are thought to cause autism in women, highly evaluated epoch-making methods

ByCIAT

women areautismIt is said that the rate of occurrence is low, about a quarter of men. For that reason, the status of autism in women has not been studied so much, but scientific journalsNatureAccording to the paper published in the article, it has become clear that genetic sequences unique to women suffering from severe autism exist.

Loss of [dgr] -catenin function in severe autism: Nature: Nature Publishing Group
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature14186.html

Scientists may have identified a gene that causes severe autism in women | The Verge
http://www.theverge.com/2015/3/25/8288671/autism-causes-genetic-research-study-women

Generally speaking, most of the idea that autism occurs is congenital brain dysfunction, but Tychele Turner, a researcher at the University of Washington and co-author of the paper, Female brain has a phenomenon which is also called "female protective effect" that makes autism difficult to develop, and it is necessary that mutation of brain cells that cause disease progression is severe or more occur than male I know that there is. From this, the research team says that by investigating the female brain in detail, you can study the mechanism itself of autism more deeply.

In this study, we survey the genes of 13 women with severe autism. It is known that 13 women are not related to each other and autistic individuals are present in individual relatives. As a result of the survey, 13 people compared with those who do not have autism "CTNND 2It was found that many mutations were found in the genetic sequence called "This part was found to have a great relation to the onset of autism.

However, because the number of samples in the survey on genes is too small to be 13, the research team will make use of genetic data of research conducted in the past. Turner says, "By evaluating thousands of other data, we confirmed that the trends in the genes we discovered were determinate." As a result, the research team confirmed that there was certain relevance. Turner says "We have confirmed that there are mutations in the genetic sequence in more cases than we expected," he says.

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At this stage, mutation of the genetic sequence was confirmed at a certain rate in the autistic patient, but this is still a stage where it can not be concluded that "the mutation is the cause of autism" It is clear that there is. Then, the research team subsequently made a mutation by modifying the gene of freshwater fish zebrafish, and found that there was a problem in the part of the brain known to be associated with the onset of autism It was confirmed. In addition, the research team conducted experiments to elucidate mutations in the CTNND2 gene using a mouse and found that neurons present in the hippocampus, which is important for long-term memory of the brain, stop moving "talking" to each other.

About this result, Kevin Pelphrey who did research on autism at Yale University and did not participate in the above experiments said "very nice results". We investigated the effects of genes using zebrafish and mouse, highly appreciated the modeling of the role in neuron development, and compared the results of Turner et al 's research team to " It is epoch-making in the sense that it reproduced what caused it. "

Following the presentation of the research results, the research team will expand the scope of the study and will start research on autism in men. However, Mr. Turner hopes that future research will accelerate research on autism in women in the future. As in this case, families with multiple autistic patients among relatives are very rare, but "such patients are also important and need to do research. Just because the number is small does not mean you can exclude it from the subject of research, "Turner says.

Pelphrey said, "This breakthrough technique will have an impact on other researchers," and that the results of this research team have provided a pathway to future autism research and that the significance of the study I am talking.

ByJacki Gallagher