Searchable abstracts of presentations at key conferences in endocrinology

ea0066p24 | Diabetes 2 | BSPED2019

Characterizing putative mutant variants of monogenic diabetes

Brezovjakova Helena , Mueller Laura , Spagnoli Francesca

Diabetes mellitus is a disease with one of the greatest burdens to both the economy and the individual. Monogenic diabetes mellitus, responsible for neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY), results from one mutation in a single gene. Many of these genes play a role in pancreatic development and their variants can increase risk of type 2 diabetes mellitus (T2DM). Therefore, while the monogenic form of diabetes contributes the least to the over...