This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This proposed research will investigate the patterns of exprssion and the neurobehavioral correlates of 12 selected molecular targets of FMRP, the protein that is deficient in Fragile X syndrome (FraX). The study focuses on boys with FraX, specifically on immunochemical and molecular measurements of lymphocyte samples. For the molecular-neurobehavioral correlations, the subjects will undergo a comprehensive behavioral characterization that will ultimately lead to the assembly of a representative sample of FraX's spectrum of phenmotypical manifestations. The investigation intends to study 100 males with FraX and 20 normal controls; the latter will serve as a normative group for the molecular measurements. Molecular-behavioral analyses will only include FraX subjects. This study takes advantage of data collected under protocol #97-08-21-04 (R01HD33175), corresponding to blood samples and behavioral data on 50 FraX and 10 control subjects over a period of two years. At present, we are requesting support for the study of 47 FraX subjects and 10 controls since we have already evaluated 3 FraX patients and we have IRB approval for only 10 controls. We hypothesize that this study will demonstrate that selected molecular targets of FMRP contribute to specific aspects (and their variance) of FraX's neurobehavioral phenotype.
Showing the most recent 10 out of 1014 publications
