Maturity Onset Diabetes of the Young
We distinguish two diabetes forms, type 1 and type 2. A clearly defined sub-form is MODY. All forms lead to a primarily increased blood glucose level (hyperglycemia). The higher the discrepancy from the normal blood sugar value and the longer it lasts, the higher the risk for the patient to suffer from late stage damages.
The differentiation between the various forms of diabetes is important for the therapy and prognosis of the diabetes patient. This is particularly true for MODY (3-5 % of all diabetes patients), a monogenic hereditary form of diabetes. The knowledge of six causing genes allow a precise diagnosis and a targeted therapy of the disease:
- Often a MODY-Patient is treated unnecessarily with insulin, because the disease is confounded with the early appearing diabetes type 1.
- Mutations in 4 causing genes are responsible for 90 % of all MODY cases.
- IntegraGen-Diagnostics includes the complete sequencing of all coded regions of the 4 most important causing genes which allows to design a very individualized therapy.
- Thanks to IntegraGen-Diagnostics, clear counseling on risk can be provided to each family member, and pre-symptomatic action may be taken.
Complete Sequencing of the Genes
For MODY the interdependence between the genetic level and the course of disease is well understood. To date around 6 different genes have been identified, where defects cause one of the MODY forms (MODY 1 – MODY 6). The gene defects are called mutations. For each gene, numerous different mutations are known. Each MODY form has particular characteristics, and often different mutations in one gene trigger variable courses of the disease.
The genes studied to make the diagnosis could be carrying a pathogenic mutation in practically any place on the gene, ie is highly polymorphic. For MODY, the analysis of the complete gene is required – technically this means the sequencing of the complete gene.
