Molecular and biochemical analysis of the MODY syndromes

Author: Winter, William E.

Source: Pediatric Diabetes, Volume 1, Number 2, June 2000 , pp. 88-117(30)

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Abstract:

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.

Keywords: atypical diabetes mellitus; glucokinase; hepatocyte nuclear factors; maturity-onset diabetes of the young; transcription factors

Document Type: Research article

DOI: http://dx.doi.org/10.1034/j.1399-5448.2000.010206.x

Publication date: 2000-06-01