A Novel SUMO-like Gene for Type 1 Diabetes Susceptibility

Description:

Current State of the Art: 

Type 1 diabetes is an organ-specific autoimmune disease with aberrant immune responses to specific β-cell autoantigens.  Prevention is important because diabetes interrupts normal development in children and carries the threat of severe complications in the most active period of life.  Both environmental and genetic factors play etiological roles. The most informative genetic locus, HLA class II, confers about half of the total genetic risk, but has low positive predictive value when used alone in the general population1. Autoantibodies provide a practical readout of β-cell autoimmunity, are easily sampled in venous blood, and have become a mainstay of type 1 diabetes prediction efforts.

 

Disadvantages with the Current Art: 

Autoantibodies are useful to detect developing type 1 diabetes in close relatives of diabetic patients, whose risk is 3%. However, most cases are sporadic rather than familial, necessitating general population screening. This has been difficult in part because the observed autoantibody prevalence greatly exceeds the low disease prevalence in nonrelatives leading to high false-positive rates.  As stated previously, the most informative genetic locus, HLA class II, confers about half of the total genetic risk, but has low positive predictive value when used alone in the general population.

 

Advantages of the Invention: 

Through a genetic study of 944 multi-ethnic diabetes families, the inventors have narrowed the human IDDM5 locus to a 180kb of genomic DNA on chromosome 6q25.  The inventors have cloned and characterized a novel gene named SUMO4, which showed strong homologies to the SUMO gene family.  SUMO4 confers susceptibility to human type 1 diabetes.  This is an improvement on current methods; the addition of the SUMO4 gene as a predictor of type 1 diabetes risk to HLA genes enhances prediction risk because there is one more gene, SUMO4, added to the group of existing predictive genes such as HLA. 

 

Patent Status:  US Pat. Pub. No. 2007/0225480

 

Inventors:  Jin-Xiong She, Ph.D; Cong-Yi, M.D.;

 

Case Number:  GHSU 2004-011

Patent Information:
Category(s):
Diagnostics
For Information, Contact:
GRU
Augusta University
 
Inventors:
Jin-Xiong She
Cong-Yi Wang
Keywords:
Diabetes
Genomics
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