DIGENIC MUTATIONS ASSOCIATED WITH SEVERE INSULIN RESISTANCE AND TYPE 2 DIABETES AND THEIR USE IN THE DIAGNOSIS AND TREATMENT OF DIABETES

摘要

The invention provides mutated genes for peroxisome proliferator-activated receptor gamma (PPARgamma ) and the glycogen-associated regulatory subunit of protein phosphatase-1 (PPP1R3A), PPARgamma FS and PPP1R3AFS, respectively, and polynucleotides and proteins of PPARgamma FS and PPP1R3AFS that are expressed in diabetes. It also provides for the use of the DNA mutation, the protein, a polynucleotide encoding the protein, and antibodies that specifically bind the protein in various methods to diagnose, stage, treat, or monitor the treatment of diabetes.