Alternative Splicing Regulatory Network in the Treatment and Diagnosis of Autism and Neurological Disorders

This invention is a program or set of highly conserved, neuronal-specific 3-27 microexons that is concentrated in genes with neuronal functions. This set of neuronal microexons is misregulated in individuals with autism spectrum disorder (ASD). At least half of all detected microexons are controlled by the AS regulator SRRM4 (also referred to as nSR100) and that microexon levels correlate significantly with SRRM4 expression levels in the brains of human subjects. They have further shown that microexons regulated by SRRM4 are also regulated by the related factor SRRM3. Additionally our inventors have demonstrated  that SRRM4 interacts with partner proteins that control its levels of expression. Accordingly, one aspect of the present disclosure is directed to a method of treating a neurological disorder or disease or improving neurological function, comprising administering  a modulator of SRRM4 and/or a modulator of SRRM3 to a subject in need thereof.




Autism , Gene Expression , Genetics , Neurological Disorders