Biomarkers and lysosomal storage diseases

Biomarkers are measurable, quantifiable biological parameters that are used as a sign of a normal or abnormal process. A biomarker can be used to see how well the body responds to treatment for a disease. In the case of lysosomal storage diseases, chitotriosidase, which is secreted from macrophage storage cells named Gaucher cells, could be used as a biomarker to monitor the disease process and the response to the expensive treatments (enzyme replacement therapy and substrate reduction therapy). PARC/CCL18 is another Gaucher cell biomarker which is used instead of chitotriosidase in last few years. Moreover, there is a need for comparable surrogate markers for other lysosomal storage diseases and the search for such molecules is an area of intense investigation. New biomarkers are identified for lysosomal storage diseases by using several modern proteomic technologies.