Elaborate diseases such as schizophrenia and autism do not have a clear mutational footprint due to which diagnosis becomes tricky. On the other arm, diagnosis for diseases like muscular dystrophy, Huntington’s disease, and cystic fibrosis is elementary because it can be traced back to a single mutation. Now a fresh probe shows that a potential infrequent gene mutation could act as a predictor for the neurodevelopmental disorders—schizophrenia and autism.

A team of Japanese researchers from Osaka University established that a single amino acid substitution in the protein CX3CR1 may act as predictor for schizophrenia and autism. For the research, a statistical analysis of the CX3CR1 gene in over 7000 schizophrenia patients, autism patients, and healthy subjects was conducted. One mutant candidate and a single amino acid switch from alanine to threonine was discovered as a candidate marker for prediction. One of the authors of the explore, Professor Toshihide Yamashita, from Osaka University states: “Uncommon variants alter gene function but occur at low frequency in a population. They are of high interest for the examine of elaborate diseases that have no clear mutational cause.”

Since there is no reliable way to diagnose schizophrenia or autism, this examine will help in gaining a deeper understanding of the genetic risk factors and will help researchers develop preventative measures. The findings, which were published in the journal Translational Psychiatry, are the very first to connect a genetic variation with neurodevelopment disorders. There’s hope that the discovery will become a basis for predictive diagnostics.

DOI: Ten.1038/tp.2017.173


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