Impact of Polygenic Risk Scores on the Clinical Presentation and Glycaemic Variability of GCK-MODY
Posted inDiabetes & Endocrinology Internal Medicine news

Impact of Polygenic Risk Scores on the Clinical Presentation and Glycaemic Variability of GCK-MODY

This article explores how polygenic background modifies GCK-MODY clinical phenotypes, influencing HbA1c levels and diagnostic thresholds. Findings highlight the distinct polygenic patterns in GCK-MODY compared to HNF1A-MODY, emphasizing the interaction between monogenic and polygenic factors in diabetes.
Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants
Posted inDiabetes & Endocrinology news

Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

A systematic analysis reveals that the pathogenicity of loss-of-function variants in MODY genes is gene-specific and dependent on nonsense-mediated decay status. Crucially, NMD-escape variants in the INS gene represent a novel, clinically distinct cause of MODY, improving diagnostic precision for monogenic diabetes.