Ins gene

The INS gene codes for peptide hormone insulin. The INS gene is located on the short arm of chromosome 11 (11p15.5). Mutations in the INS gene lead to pathologically reduced insulin production and to the clinical picture MODY10. In rare cases, mutations in the INS gene are also detected in neonatal diabetes (Gohar NA et al. 2017). The insulin gene is expressed almost exclusively in pancreatic β-cells. The main stimulant for the expression of the gene is glucose in the blood.

An increasingly growing list of insulin gene mutations that cause various variants of monogenic diabetes has become known in recent years. The mutations affect a variety of different steps of insulin biosynthesis in the beta cells of the pancreas. Many of these mutations lead to a misfolding of proinsulin with early onset of diabetes.

Overall, the (pre-)proinsulin mutants provide insightful models to better understand the pathogenesis of all forms of diabetes involving pre-proinsulin processing errors, proinsulin misfolding (Liu M et al. 2015).

1. Glaser B (2008): Insulin mutations in diabetes. diabetes 57: 799-800
2. Gohar NA et al (2017) Identification of insulin gene variants in neonatal diabetes. J Matern Fetal Neonatal Med 30:1035-1040. https://www.ncbi.nlm.nih.gov/pubmed/27279137
3. Liu M et al (2015) INS gene mutations: from genetics and beta cell biology to clinical disease. Mol Aspects Med 42:3-18. https://www.ncbi.nlm.nih.gov/pubmed/25542748