Insulin receptor gene mutation and inherited insulin resistance syndrome

Abstract

Inherited insulin resistance syndrome is a disease related to insulin gene mutation,insulin receptor gene mutation and insulin post-receptor gene mutation. The most common one is the insulin receptor gene mutation including Leprechaunism, Rabson-Mendenhall syndrome and type A insulin resistance. Leprechaunism, the most severe one,develop a constant hyperglycemia followed by diabetic ketoacidosis and death due to a progressive decline of endogenous insulin secretion. Type A insulin resistance usually found in young women is not presented with severe diabetes and could survive to adults. The clinical severity of Rabson-Mendenhall syndrome is between Leprechaunism and type A insulin resistance. The heterogeneity of these three can be associated with the type of mutation, the difference of mutable site and the defects of other related genes. Key words: Insulin receptor; Insulin receptor gene; Insulin resistance; Leprechannism; Rabson-Mendenhall syndrome; Type A insulin resistance; Inherited insulin resistance syndrome