Method of Detecting and Treating Tuberous Sclerosis Complex Associated Disorders

Abstract

Disclosed are methods of detecting and treating tuberous sclerosis complex associated disorders. Also disclosed are methods of identifying agents for treating tuberous sclerosis complex associated disorders.

What is claimed is: 
     
         1 . A method of diagnosing or determining the susceptibility to a tuberous sclerosis complex associated disorder in a subject, the method comprising: (a) providing from the subject a test cell population comprising cells capable of expressing one or more nucleic acid sequences selected from the group consisting of TSC 1-8, 10-12, 15-141 and 142; (b) measuring expression of one or more of the nucleic acid sequences in the test cell population; and (c) comparing the expression of the nucleic acid sequences in the test cell population to the expression of the nucleic acid sequences in a reference profile comprising at least one cell from a subject not suffering from a tuberous sclerosis complex associated disorder; and (d) identifying a difference in expression levels of the nucleic acid sequences, if present, in the test cell population and reference profile, thereby diagnosing or determining the susceptibility to a tuberous sclerosis complex associated disorder in the subject. 
     
     
         2 . The method of  claim 1 , wherein the subject is a human. 
     
     
         3 . The method of  claim 1 , wherein the tuberous sclerosis complex associated disorder is selected from the group consisting of hamartomas, hamartias, renal carcinoma, malignant angiomyolipoma, hypomelanotic macules, facila angiofibroma, shagreen patches, and ungula fibromas. 
     
     
         4 . The method of  claim 1 , wherein the method comprises comparing the expression of five or more of the nucleic acid sequences, comparing the expression of 20 or more of the nucleic acid sequences or comparing the expression of 25 or more of the nucleic acid sequences. 
     
     
         5 . An isolated nucleic acid comprising a nucleic acid sequence selected from the group consisting of a TSC 1-8, 10-12, 15-25 gene, and its complement. 
     
     
         6 . A vector comprising the nucleic acid of  claim 5 . 
     
     
         7 . A cell comprising the vector of  claim 6 . 
     
     
         8 . A polypeptide encoded by the nucleic acid of  claim 5 . 
     
     
         9 . A method of treating a disease or disorder characterized by aberrant expression or activity of NMB, said method comprising administering the isolated antibody that immunospecifically binds to an NMB polypeptide. 
     
     
         10 . The method of  claim 9 , wherein the antibody inhibits expression or activity of NMB. 
     
     
         11 . The method of  claim 9 , wherein the disease or disorder characterized by aberrant expression or activity of NMB is a cancer. 
     
     
         12 . The method of  claim 11 , wherein the cancer is breast cancer. 
     
     
         13 . The method of  claim 11 , wherein the cancer is selected from the group consisting of melanoma, renal carcinoma, lung carcinoma, and a CNS cancer. 
     
     
         14 . The method of  claim 11 , wherein the cancer is a metastasis from a primary tumor. 
     
     
         15 . The method of  claim 14 , wherein the primary tumor is selected from the group consisting of a breast cancer tumor, a melanoma, a renal cell carcinoma, a lung carcinoma, and a CNS cancer. 
     
     
         16 . The method of  claim 9 , wherein the antibody is administered prior to the manifestation of a symptom associated with aberrant expression or activity of NMB, thereby delaying the progression of the disease or disorder. 
     
     
         17 . The method of  claim 9 , wherein the antibody is administered systematically or locally. 
     
     
         18 . The method of  claim 9 , wherein the antibody is a monoclonal antibody. 
     
     
         19 . The method of  claim 9 , wherein the antibody is a human monoclonal antibody. 
     
     
         20 . The method of  claim 9 , wherein the antibody is a humanized antibody.