Autophagy and phospholipidosis pathway assays

摘要

Provided are assays useful for detecting and monitoring autophagy and phospholipidosis, including the progression of lysosomal storage diseases. Drugs and treatments for lysosomal storage diseases can be monitored for effectiveness in lysosomal storage disease conditions. Drug candidates and suspected toxic agents can also be screened for toxicity to cells, tissues and organs. Also provided are methods for distinguishing between phospholipidosis activators and autophagy pathway perturbation agents.

主权项

1. A method of detecting the presence of a lysosomal storage disease in a subject comprising the steps of:
(a) obtaining a sample containing cells from said subject; (b) contacting said sample with a cationic amphiphilic tracer compound that localizes to a vacuole in a cell selected from (c) detecting said cationic amphiphilic tracer compound, thereby determining whether there exists an excess above normal accumulation of vacuoles within said cells of the sample, said excess above normal accumulation of vacuoles being indicative of the lysosomal storage disease, wherein the lysosomal storage disease is selected from Fabry disease and Niemann-Pick disease, and wherein said cells in step (a) are selected from lymphocytes, granulocytes, macrophages, monocytes, or a combination thereof.