From the results of Nagoya University's research it is surely that the same genetic root exists in autism and schizophrenia

By National Human Genome Research Institute

To develop by congenital cause autism and schizophrenia are both genomic copy number variants (copy number variation: CNV) new research results confirm that they are caused by mutations in a gene called the Nagoya University research It was announced by the team.

Comparative Analyzes of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights: Cell Reports

We Just Got Even More Evidence That Autism And Schizophrenia Share Genetic Roots

Evidence supporting the hypothesis that "CNV is related to autism and schizophrenia" has been clarified by the research, but most of it is based on research directed to Westerners did. However, the hypothesis has been confirmed as being more reliable by the paper by Nagoya University graduate school, which was announced on September 11, 2018 in the academic paper Media Cell Reports .

This research was conducted by Professor Norio Ozaki et al., Who studies psychiatry at the Graduate School of Medicine at Nagoya University. Professors Ozaki and colleagues collaborated with domestic research institutes to analyze genomic copy number mutations in patients with autistic spectrum syndrome and schizophrenia in the whole genome and found that CNV having pathological significance associated with onset CNV) and a biological mechanism, it was found that there is a part overlapping both diseases.

Autistic Spectrum Disease and Schizophrenia: Discovering Overlapping of Onset Mechanisms in Two Mental Disorders - Expecting to Develop into Genomic Medicine -
(PDF file)

Schizophrenia and autism spectrum spectroscopy are differentiated as psychiatric disorders according to psychiatric diagnostic criteria based on psychiatric symptoms, but from recent epidemiological studies, the etiology and pathology of these two diseases can overlap Sex has been suggested. CNV occurs when the chromosome of the genome constituting DNA is incompletely replicated, and it is a state in which chromosomes are replicated repetitively unlike ordinary cases. The number of iterations varies widely from person to person, but up to 10% of the genome may be classified as CNV.

The research team analyzed the genome-wide CNV in detail using a method called " array CGH " for Japanese patients and healthy subjects with more than 5,500 autistic spectrum symptoms and schizophrenia as a whole, and the two patient groups Perform comparison analysis of data with. As a result, a known pathological CNV was found in about 8% of each patient with both diseases. Although these mutations are widely distributed on the chromosome, it is confirmed that common mutations in both diseases are found in 29 genomic regions, and risk mutations overlap. In addition, the region called "22q11.2" in CNV is autosmoked spectrum disease, and the association between 22q11.2 deletion, 1q21.1 deletion, 47, XXY / 47, XXX and schizophrenia is statistics It is also found to be significant as well.

About the results of the research The research team says, "There is a possibility that it can be useful for the development of diagnosis based on genomic mutation of autistic spectrum disease and schizophrenia, elucidation of the pathological condition, development of novel therapeutic agents in the future". Regarding future developments, "Since 8% of patients with autistic spectrum disease and schizophrenia were able to identify CNV associated with onset, we could use this knowledge for genomic medicine that uses this diagnosis and treatment for patients "It is also possible to expect development." "In addition, by producing pluripotent pluripotent stem cells (iPS cells) from patients with pathological CNV and inducing their differentiation into neurons and using them as disease model cells, "There is also a need to continue further research as" Since it is unknown about the mechanism by which different mental illness occurs from the same diseased CNV, "it states that"

in Science, Posted by darkhorse_log