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Molecular and biochemical analysis of the MODY syndromes
Author(s) -
Winter William E.
Publication year - 2000
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1034/j.1399-5448.2000.010206.x
Subject(s) - medicine , hepatocyte nuclear factors , glucokinase , maturity onset diabetes of the young , diabetes mellitus , endocrinology , beta cell , insulin , hepatocyte nuclear factor 4 , type 1 diabetes , type 2 diabetes , genetics , gene , transcription factor , biology , nuclear receptor , islet
Maturity onset diabetes of the young (MODY) is characterized by youth‐onset diabetes that is inherited in an autosomal dominant (monogenic) pattern. Classic MODY accounts for less than 5% of cases of childhood diabetes in Caucasians, presents prior to age 25 years, is nonketotic, and may not require insulin treatment. A variant form of MODY that lacks a clearly defined genetic basis occurs in African Americans [atypical diabetes mellitus (ADM)] clinically presents more acutely and is initially insulin requiring. To date, five molecular causes of classic MODY have been identified: hepatocyte nuclear factor‐4α (HNF‐4α; MODY1), glucokinase (MODY2), hepatocyte nuclear factor‐1α (HNF‐1α; MODY3), insulin promoter factor‐1 (IPF‐1, MODY4), and hepatocyte nuclear factor‐1β (HNF‐1β; MODY5). MODY is studied as a model of beta cell hypofunction and modest insulinopenia. Clinical recognition of ADM is important for patient management to avoid confusion with type 1 diabetes mellitus.