Clinical profiling and screening for HNF4 α and GCK gene mutations in Kashmiri patients with maturity-onset diabetes of the young (MODY)

Maturity-onset diabetes of the young (MODY) is a relatively uncommon (1 –5%) but widely recognized form of diabetes in the younger generation. It is a non-insulin-dependent, monogenic, heterogeneous illness defined by disrupted pancreatic β-cell behavior that is transmitted in a familial autosomal dominant pattern and is commonly diagnosed at the age of 25 [1–3]. T o avoid unnecessary screening, it is critical to rule out type1 and type2 diabetes during the molecular evaluation of MODY. MODY is diagnosed using three marker genes: hepatocyte nuclear factor 4 alpha (HNF4α), hepatocyte nuclear factor 1 alpha (HNF1α), and glucokinase (GCK) [4].

Source: Primary Care Diabetes - February 4, 2022 Category: Primary Care Authors: Parveena Firdous, Toyeeba Hassan, Kamran Nissar, Shariq Rashid Masoodi, Bashir Ahmad Ganai Tags: Original research Source Type: research