Identification of microRNAs associated with human fragile X syndrome using next generation sequencing

Fragile X syndrome is caused by a mutation in the fragile X mental retardation 1 gene which can lead to a loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs, and a change can cause a range of neurological disorders. miRNAs could act as a novel class of potential biomarkers for the diagnosis and prognosis of common CNS diseases. Blood samples were taken from 15 patients with FXS and 12 controls. This study is one of the first to present evidence of altered miRNA expression in blood samples from FXS patients, which could be used for diagnostic, prognostic, and treatment purposes.