Identification Of Specific Lysosomal Storage Diseases

The rarer a disease, the more likely it is that biomarkers are unavailable. In terms of some of the lysosomal diseases, of which there are more than 50, there are actually no universally recognized biomarkers other than specific protein (enzyme) or substrate markers. Thus, for four mucoploysaccharidoses disorders (MPS I, MPS II, MPS III, and MPS VI), and Pompe disease, Gaucher disease, and Fabry disease there are protein markers, either enzymes or macrophage biomarkers; and for seven diseases (MPS I, MPS II, MPS IIIA, MPS IIIB, MPS IVA, MPS VII, and Fabry disease) there are substrate markers [1]. Urinary heparan sulfates can be used to differentiate MPS IIIC (Sanfilippo C syndrome) and MPS II (Hunter disease) [2] . keratin sulfate to identify MPS IV and possibly other MPS disorders [3], and antibodies against gangliosides (i.e., anti-GM2 and anti-GM3) based on animal modeling. Antibodies, monoclonal and/or polyclonal, have been generated against some of the diseases' enzymes or substrates as well. Immunohistochemical techniques that can also be used to identify proteins [4], although not quantitative, may prove to have considerable potential as predictive markers if teamed with other techniques, such as mass spectrometry or various forms of chromatography.

In the first decade of 2000, before his untimely death, Nestor Chamoles produced filter papers for dried blood spots to identify various enzymes whose deficiencies implicated a lysosomal disorder: a -l- iduronidase (MPS I), a -galactosidase (Fabry disease), P-D-galactosidase (GM1 gangliosidosis), and others [5-13] . Eventually, the technology was streamlined into a multiplex assay identification of enzymes for Fabry, Gaucher, Hurler, Krabbe, Niemann-

Project Management Made Easy

Project Management Made Easy

What you need to know about… Project Management Made Easy! Project management consists of more than just a large building project and can encompass small projects as well. No matter what the size of your project, you need to have some sort of project management. How you manage your project has everything to do with its outcome.

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