This technology includes a precise measurement assay of cellular FMRP levels in patients, which can assist in the diagnosis and assess the severity of Fragile X syndrome (FXS). FXS is an X-linked disorder that produces intellectual disability, cognitive impairment, epilepsy, depression and anxiety. FXS is caused by mutations in the Fragile X Mental Retardation-1 (FMR1) gene that result in the absence or a loss of function of its protein product, FMRP. This TR-FRET based FMRP assay method uses two specific antibodies against two different sites of FRMP that has very high specificity for the measurement. The application of TR-FRET based HTRF detection in this assay (by labeling HTRF detection pair to the two antibodies) enables a homogenous measurement of cellular FMRP levels in 96-, 384- and 1536-well plate formats.
This TR-FRET based FMRP assay method uses two specific antibodies against two different sites of FRMP that has very high specificity for the measurement, which is better than the conventional assays used (Western blot and ELISA).