ABSTRACT
A short account is presented of the evolution of knowledge concerning Niemann-Pick's and Gaucher's diseases, two autosomal recessive genetic disturbances of lysosomal storage function. This culminated in the intriguing realisation, arising from mounting clinical and molecular evidence, that glucocerebrosidase mutations constitute the most common risk factor for Parkinson's disease identified to date.
Subject(s)
Gaucher Disease , Niemann-Pick Diseases , Gaucher Disease/genetics , Gaucher Disease/history , Gaucher Disease/metabolism , Glucosylceramidase/genetics , History, 20th Century , Humans , Mutation/genetics , Niemann-Pick Diseases/genetics , Niemann-Pick Diseases/history , Niemann-Pick Diseases/metabolismABSTRACT
Understanding the molecular basis of Niemann-Pick C (NP-C) disease took decades of struggle. Here I describe our early efforts to unravel the complex lipid storage found in NP-C tissues, and how the mouse model for NP-C pointed us in the right direction. Our success in cloning the NP-C1 gene in 1997 can be attributed to collaboration between an international body of scientists and families coping with NP-C disease. The next challenge is to delineate the biological function of the NP-C1 protein.
