GAUCHER DISEASE STUDY

点击翻译按钮获取中文摘要

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. The overall objective of the proposed research is to elucidate the molecular mechanisms leading to the remarkable phenotypic variability in Gaucher Disease, a prototype inborn error of metabolism. Gaucher disease is due to the deficiency of acid beta-glucosidase, a lysosomal enzyme encoded by the GBA locus. Two hypotheses to be addressed in these investigations include: 1) that polymorphic variations at the GBA locus in conjunction with known disease-related mutations lead to phenotypic variability of GC and to altered expression of mutant enzymes from this locus. 2) The in vivo activity levels of enzymes in inborn errors of metabolism, with GD as a prototype, is a primary determinant of their regional, tissue or cellular pathophysiology.