Mody 10 E11.-

MODY is the acronym for "Maturity-onset Diabetes of the Young" and describes a group of autosomal-dominantly inherited, genetically heterogeneous, not always insulin-dependent forms of diabetes. The MODY forms of diabetes are caused by various disorders of beta cell function in the pancreas. The body weight of MODY patients is usually normal. Neither are any of the autoimmune phenomena characteristic of type 1 diabetes observed. Rare are other associated organ dysplasias (eyes, pancreas, intestine).

The frequency of MODY 10 is <1% of all MODY cases.

MODY 10 is caused by monogenic autosomal-dominantly inherited mutations in the INS gene, which codes for the peptide hormone insulin. The INS gene is located on the short arm of chromosome 11 (11p15.5).

If mutations in the INS gene are present, pathologically decreased insulin production occurs. In rare cases, mutations in the INS gene are also detected in neonatal diabetes.

The clinical symptoms of MODY 10 are very heterogeneous, but characterized by a mild course. The main clinical features are: early onset of symptoms, hyperglycaemia, slim patients without type 1 diabetes; occurrence of diabetes in several generations, but lack of diabetes cases in the family does not exclude MODY 10, as diabetes is often not recognized.

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