Diagnosis of lysosomal storage disorders using saposins and...

Details Diagnosis of lysosomal storage disorders using saposins and... Diagnosis of lysosomal storage disorders using saposins and...

G - Physics

01

N

G01N 33/68 (2006.01) C12Q 1/34 (2006.01) C12Q 1/68 (2006.01) G01N 33/573 (2006.01)

Patent

CA 2366232

The invention provides methods of diagnosing or monitoring lysosomal storage disorders based on detecting levels of saposins, LAMPs and/or .alpha.-glucosidase in patient sample. Elevated levels of saposins and/or LAMPs are indicative of a disorder. Elevated levels of .alpha. glucosidase are indicative of some types of lysosomal storage disorders and decreased levels of .alpha. glucosidase are indicative of other types of lysosomal storage disorder. In some methods, the profile of elevation of different saposins, LAMPs and .alpha. glucosidase allows distinction between different types of lysosomal storage disorder.

L'invention concerne des méthodes de diagnostic ou de suivi de troubles lysosomiaux basés sur la détection de niveaux de saposines, de LAMP et/ou alpha -glucosidase dans un échantillon prélevé sur un patient. Les niveaux élevés de saposines et/ou de LAMP indiquent l'existence d'un trouble. Des niveaux élevés d'une alpha -glucosidase indiquent certains types de troubles lysosomiaux et des niveaux faibles d' alpha -glucosidase indiquent d'autres types de troubles lysosomiaux. Dans certaines méthodes, le profil d'élévation de différentes saposines, LAMP et d' alpha -glucosidase permet une distinction entre différents types de troubles lysosomiaux.

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