Complex diseases such as schizophrenia and autism do not have a clear mutational footprint due to which diagnosis becomes tricky. On the other hand, diagnosis for diseases like muscular dystrophy, Huntington's disease, and cystic fibrosis is simple because it can be traced back to a single mutation. Now a new study shows that a potential rare 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 study, Professor Toshihide Yamashita, from Osaka University states: "Rare variants alter gene function but occur at low frequency in a population. They are of high interest for the study of complex diseases that have no clear mutational cause."
Since there is no reliable way to diagnose schizophrenia or autism, this study 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 first to connect a genetic variation with neurodevelopment disorders. There’s hope that the discovery will become a basis for predictive diagnostics.