Brochure MODYScan. The genetic test MODYScan specifically detects DNA regions in which the genetic changes mutations
Brochure MODYScan MODYScan The genetic test MODYScan specifically detects DNA regions in which the genetic changes mutations can cause Maturity-Onset ...
Brochure MODYScan MODYScan The genetic test MODYScan specifically detects DNA regions in which the genetic changes mutations can cause Maturity-Onset Onset Diabetes of o the Young (MODY). This autosomal dominant disease is present in approximately 2-4% of the diabetic patients. A mutation in one single gene in the insulin-producing bèta cells can lead to impairment of insulin production or –secretion secretion. The majority of MODY is misdiagnosed as either diabetes type 1 of type 2. The identification of the precise ise diagnosis can predict the disease progression more accurately and can have a great impact on the clinical management.
gene Currently, 13 subtypes MODY are described of which every subtype is linked to a certain gene. MODY2 and MODY3 are the most predominant types of MODY and are the cause of over 80% of the MODY cases worldwide 1. They vary largely in disease progression and severity of the condition. In MODY2 (up to 50% of the cases) cases a mutation in the glucokinase (GCK) gene causes a stably raised insulin level. MODY2 patients ents have a lifelong mildly ly elevated plasma glucose levels and do not become insulin-dependent. dependent. The incidence of classic diabetic complications such as retinopathy and kidney damage are low. By limiting and spreading spreading the carbohydrate intake during the day, most physical consequences can be prevented. In other MODY types the glucose tolerance is age-dependent age dependent and type 2 diabetes might occur. occur Nevertheless, MODY can usually be treated with tablets until a high age, what is less invasive than insulin injections.
When testing for MODYScan? MODYScan (According to the Dutch NHG 3 t h revision) revision : • • • • •
Onset of the disease at relatively young age (usually before the age of 25). Family history consistent with monogenetic inheritance: diabetes in two generations with multiple persons affected. No insuline resistance ce characteristics such as obesitas. Initially easily treatable hyperglykemia hyperglykemi and/or the absence of ketoacidosis. ketoacidos No autoantibodies bodies matching type 1 diabetes.
Which genes are included in MODYScan? MODYScan By Next Generation Sequencing we determine the full sequence of 12 genes linked to MODY: HNF1A, HNF4A, HNF1B, GCK, PDX, NEUROD1, CEL, INS, KCNJ11, KLF11, PAX4 en BLK. BLK. MODY causing mutations are very heterogenous: most mutations are unique. Solely in GCK (MODY2) and HNF1A (MODY3) already over 200 different single nucleotide polymorphisms (SNPs) are described2.
