MODY Mutation Detection Kit with Next Generation Sequence Analysis
“Maturity onset diabetes of the young” (MODY) is a clinically heterogeneous disease characterized by a non-insulin-dependent diabetes mellitus, which is diagnosed at a young age (25 years of age), where autoimmunity does not play a role. It often transits with autosomal dominant inheritance. MODY is the most common form of monogenic diabetes, accounting for approximately 2-5% of all diabetes cases. Because of the variable clinical characteristics, most of these patients are misdiagnosed as Type 1 or Type 2 Diabetes Mellitus.
Numerous different genetic causes have been identified that make up the different strains of the disease. As a result of the mutations in genes that are involved in pancreatic beta cell development, function and regulation, glucose sensitivity and the defect in insulin secretion or its effect occur.
Mutations in the HNF1A and GCK genes are the most frequently identified etiology, followed by the HNF4A gene. Mutations in the genes IPF1, HNF1B, NEUROD1, CEL, INS, ABCC8, and KCNJ11 have been reported to cause the MODY manifestation.