Human lysosomal protein and methods of its use
AssigneeUniversity of Medicine and Dentistry of New Jersey
InventorsPeter Lobel, David Sleat
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Abstract
The gene associated and causative of classical late infantile neuronal ceroid lipofuscinosis (LINCL), CLN2, has been identified and characterized. The translation product of this gene is a novel protease and a deficiency in this activity results in LINCL. Identification of CLN2 will not only aid in the prevention of LINCL through genetic counseling but provides strategies and test systems for therapeutic intervention. In addition, further characterization of this previously unknown lysosomal enzyme may provide useful insights into other more common human neurodegenerative disorders. Finally, the utility of a general approach for determining the molecular bases for lysosomal disorders of unknown etiology has been demonstrated.
Claims7
An isolated CLN2 protein with the following characteristics:
- a) said CLN2 is a protein with pepstatin-insensitive carboxyl protease activity;
- and,
- b) mutation or absence of said CLN2 is causative of classical late infantile neuronal ceroid lipofuscinosis (LINCL).
A method for measuring CLN2 activity in a biological sample based on the amount of CLN2 pepstatin-insensitive carboxyl protease activity relative to normal controls in a biological sample.
Dependencies are inferred from the claim text.