Molecular Mechanisms and Clinical Pathophysiology of Maturity-Onset Diabetes of the Young

• Published in: The New England journal of medicine Vol. 345; no. 13; pp. 971 - 980
• Main Authors: Fajans, Stefan S, Bell, Graeme I, Polonsky, Kenneth S
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 27-09-2001
• Subjects: Adolescent; Adult; Age of Onset; Biological and medical sciences; Child; Diabetes; Diabetes Mellitus, Type 2 - genetics; Diabetes Mellitus, Type 2 - metabolism; Diabetes Mellitus, Type 2 - physiopathology; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Etiopathogenesis. Screening. Investigations. Target tissue resistance; Genetic Testing; Glucokinase - metabolism; Glucose - metabolism; Humans; Hyperglycemia; Insulin; Islets of Langerhans - metabolism; Medical sciences; Mutation; Pancreas; Transcription Factors - genetics; Transcription Factors - metabolism; Endocrinopathy; Human; Maturity onset diabetes young; Onset time; Pathophysiology; Adolescent; Molecular biology; Child; Age; Bibliographic review
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMra002168

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders characterized by nonketotic diabetes mellitus, an autosomal dominant mode of inheritance, an onset usually before the age of 25 years and frequently in childhood or adolescence, and a primary defect in the function of the beta cells of the pancreas. MODY can result from mutations in any one of at least six different genes (Table 1). One of these genes encodes the glycolytic enzyme glucokinase (associated with MODY 2),
3
and the other five encode transcription factors: hepatocyte nuclear factor (HNF) 4α (associated with MODY 1),
4
HNF-1α (MODY . . .