ABCC8-associated with maturity-onset diabetes in a young woman: clinical features and genetic analysis
Abstract
ABCC8-MODY is caused by variants in the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene, which encodes sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium channel (K-ATP) found in β-cell membranes. ABCC8 is responsible for the secretion of insulin, which controls blood sugar levels. We report on a 35-year-old female patient with diabetes regarding a likely pathogenic variant NM_001287174.3: c.970G>A, p. V324M (rs1328072266) in the ABCC8 gene. Based on the genetic test results, the patient was diagnosed with MODY12. Conclusions . A personalized approach to diagnosis and treatment is especially important in identifying the “non-classical” course of diabetes in young people. The presented case demonstrates the features of the clinical course and difficulties in treating a rare form of monogenic diabetes – ABCC8-MODY.
Fields of Study & Subjects
Pancreatic function and diabetes
Diabetes Treatment and Management
Drug Transport and Resistance Mechanisms
Publication details
- Journal / source
- Сибирский научный медицинский журнал
- Publisher
- Institute of Cytology and Genetics, SB RAS
- Volume
- 45
- Issue
- 6
- Pages
- 279–285
- Publication date
- 29 January 2026
- Language
- RU