Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.

Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode of inheritance. Except for these features, the clinical characteristics of patients with MODY are similar to those with the more common late-onset form(s) of NIDDM. Previously we observed tight linkage between DNA polymorphisms in the glucokinase gene on the short arm of chromosome 7 and NIDDM in a cohort of sixteen French families having MODY. Glucokinase is an enzyme that catalyses the formation of glucose-6-phosphate from glucose and may be involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism. Because the glucokinase gene was a candidate for the site of the genetic lesion in these families, we scanned this gene for mutations. Here we report the identification of a nonsense mutation in the gene encoding glucokinase and its linkage with early-onset diabetes in one family. To our knowledge, this result is the first evidence implicating a mutation in a gene involved in glucose metabolism in the pathogenesis of NIDDM.     

The effect of heat on rat pineal hydroxyindole-O-methyl transferase activity

Summary Exposure of adult male rats to continuously elevated temperature of 32–34°C caused a significant decrease of HIOMT activity involved in the specific metabolic process of production of melatonin, considered an active pineal hormone. The effect was already evident after 24 h exposure and increased further during the next 48 h. The results obtained substantiate previous data that the pineal gland may be involved in the system regulating adaptation to extreme temperature changes.Acknowledgment. The authors are indebted to MissUte Schmidt for her excellent technical assistance.     

Redox enzyme models from polymerized aminoacyladenylates

Résumé Des modèles d'enzymes d'oxydoréduction ont été préparés par polymérisation des 20 aminoacyladénylates en présence de flavine mononucléotide, d'hème et de chlorophylle. L'addition du cofacteur flavinique au cours de la polymérisation modifie la composition en acides aminés du polymère obtenu. L'article offre une discussion sur les taux de réaction, les absorptions optiques et de dispersion rotatoire et les propriétés générales des modèles d'enzymes d'oxydoréduction.

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The support from a National Science Foundation Development Program grant to the University of Texas is gratefully acknowledged as is the assistance ofDirk Schenkkan and Mrs.Sandra Smith.