Type 2 diabetes mellitus is a common disabling disease with onset in middle-aged individuals, caused by an imbalance between insulin production and action. Genetic studies point to major genetic components, but, with the exception of maturity-onset diabetes of the young (MODY), specific diabetes susceptibility genes remain to be identified. Recent studies showed that a dominant negative mutatio...

One form of maturity-onset diabetes of the young (M0DY3) results from mutations in the hepatocyte nuclear factor (HNF)-la gene, located on chromosome 12q24.2. The primary objective of the present study was to search for genetic variation in the HNF-la gene in nine nonrelated Danish Caucasian subjects with MODY. Direct sequencing of the coding region and intron-exon boundaries of the HNF-la gene...

Maturity-onset diabetes of the young (MODY) is a form of NIDDM characterized by an early age of onset and autosomal-dominant inheritance (1). So far, three MODY-causing genes have been identified; namely, the hepatocyte nuclear factor4a (HNF-4a)/M0DYl on chromosome 20q, the glucokinase/M0DY2 on chromosome 7p, and the HNFla/M0DY3 on chromosome 12 q (2-4). The identification of the MODY genes has...

Mutation of the murine maturity-onset diabetes mellitus of the young (Mody) locus induces diabetes, but the effects of its homozygosity on the pancreas remain unknown. F2 mice were obtained by F1 (diabetic C57BL6 x normal Mus musculus castaneus) crosses. About 20% of the F2 progeny developed diabetes by 2 wk of age, 50% of the progeny were normal at 2 wk and developed diabetes between 5 and 8 w...

The Squares: US Physical and Engineering Scientists in the Long 1970s, Cyrus C. M. Mody, MIT Press, 2022. Open access ($65.00 paper)

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A 19-year-old woman with diabetic lipemia and maturity-onset diabetes of the young (MODY) is reported. Though her insulin secretory activity was preserved, she fell into mild diabetic ketoacidosis (DKA) and showed type V hyperlipidemia. Post-heparin plasma activity of lipoprotein lipase (LPL) was decreased even 10 days after initiating insulin injection but not deficient. The abnormalities in l...

Background Diabetes mellitus (DM) refers to a group of common metabolic disorders, with multiple causes, that share a common phenotype: hyperglycemia (Kota, 2012). The concept of multiple etiologies is recent and a third group of DM is proposed today, a monogenic form with autosomal dominant inheritance: MODY. There are 13 subtypes described for MODY, which in MODY2 is one of the most common, a...

Mutations in hepatocyte nuclear factor (HNF)-1 (MODY3) account for the largest proportion of maturity-onset diabetes of the young (MODY) cases in the U.S. This form of diabetes is characterized by impaired insulin secretion in response to glucose, but wide variability exists in the severity of hyperglycemia and in the age at which it becomes clinically manifest. We have previously shown that th...