Sanke T, Nanjo K
First Department of Medicine, Wakayama University of Medical Science.
Nihon Rinsho. 1994 Oct;52(10):2550-5.
Three types of structurally abnormal insulin "Insulin Chicago, Los Angeles and Wakayama" has been identified in 6 families by the recent development of molecular biology. It has been clarified that a point mutation in the coding region of each patient's insulin gene allele give rise to a substitution of one amino acid of each insulin, resulting in reduced biological activities of these insulins. These abnormal insulin have slow metabolic clearance rate which cause typical hyperinsulinemia accompanying normal level of plasma C-peptide. In this paper, we review insulin gene mutations and discuss its participation to the pathogenesis of NIDDM.
通过分子生物学的最新进展，在6个家族中鉴定出了三种结构异常的胰岛素——“芝加哥胰岛素、洛杉矶胰岛素和和歌山胰岛素”。已经明确，每位患者胰岛素基因等位基因编码区的点突变导致每种胰岛素的一个氨基酸被替代，从而导致这些胰岛素的生物活性降低。这些异常胰岛素的代谢清除率缓慢，会导致典型的高胰岛素血症，并伴有正常水平的血浆C肽。在本文中，我们回顾了胰岛素基因突变，并讨论了其在非胰岛素依赖型糖尿病发病机制中的作用。
