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

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 ofglucose 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 responsiveanaemia 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.

作 者：

Maassen JA

刊 名：

Panminerva medica 

年，卷(期)：

2002V.44(no.4) 

分类号：

 

关键词：

Anemia, Megaloblastic  Diabetes Mellitus  Diabetes Mellitus, Non-Insulin-Dependent  贫血, 巨幼细胞  糖尿病  糖尿病, 非胰岛素依赖型  硫胺素

正文语种：

eng 

基金项目：