Diagnosis and Treatment of Diseases Arising from Defects in the Tuberous Sclerosis Pathway

Abstract

The present invention relates to compositions and methods for identifying abnormalities in TSC signaling pathways. In particular, the present invention relates to methods of diagnosing and treating disorders such as tuberous sclerosis, which are caused by mutations in the TSC genes. The present invention further relates to methods and compositions for treating cancers mediated by TSC signaling disorders.

1 - 30 . (canceled) 
     
     
         31 . A method of treating a subject with tuberous sclerosis comprising administering to said subject an effective amount of a pharmaceutical composition comprising a mTOR inhibitor. 
     
     
         32 . The method of  claim 31 , wherein said mTOR inhibitor is selected from the group consisting of rapamycin and a rapamycin derivative. 
     
     
         33 . The method of  claim 32 , wherein said rapamycin derivative is a monoacyl derivative of rapamycin. 
     
     
         34 . The method of  claim 32 , wherein said rapamycin derivative is a diacyl derivative of rapamycin. 
     
     
         35 . The method of  claim 32 , wherein said rapamycin derivative is a glycinate prodrug derivative of rapamycin. 
     
     
         36 . The method of  claim 32 , wherein said rapamycin derivative is a propionate prodrug derivative of rapamycin. 
     
     
         37 . The method of  claim 32 , wherein said rapamycin derivative is a pyrrolidino butyrate prodrug derivative of rapamycin. 
     
     
         38 . The method of  claim 32 , wherein said rapamycin derivative is a carbamate derivative of rapamycin. 
     
     
         39 . The method of  claim 32 , wherein said rapamycin derivative is a fluorinated ester derivative of rapamycin. 
     
     
         40 . The method of  claim 32 , wherein said rapamycin derivative is a amide ester derivative of rapamycin. 
     
     
         41 . The method of  claim 32 , wherein said rapamycin derivative is a sulfonate derivative of rapamycin. 
     
     
         42 . The method of  claim 32 , wherein said rapamycin derivative is a sulfonate derivative of rapamycin. 
     
     
         43 . The method of  claim 32 , wherein said rapamycin derivative is a sulfonylcarbamate derivative of rapamycin.