Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?

Panminerva Med. 2002 Dec;44(4):295-300.

Abstract

Diabetes represents a conglomerate of diseases with chronic hyperglycaemia as hallmark. The present review discusses those diabetic cases that associate with variants in genes that affect the magnitude of the glycolytic flux and oxidative disposal of glucose by mitochondria in pancreatic beta-cells. These genetic variants result in an attenuated secretion of insulin in response to glucose stimulation. The diabetic states that associate with these genetic variants are MODY 2, thiamine responsive anaemia syndrome (TRAS) and mitochondrial diabetes. These disease states highlight the critical contribution of the carbohydrate flux through glycolysis and mitochondria and its coupling to ATP production in determining insulin secretion.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Megaloblastic / drug therapy*
  • Anemia, Megaloblastic / physiopathology*
  • Diabetes Mellitus / physiopathology*
  • Diabetes Mellitus, Type 2 / physiopathology*
  • Humans
  • Mitochondrial Diseases / physiopathology*
  • Syndrome
  • Thiamine / therapeutic use*

Substances

  • Thiamine