Hereditary Diabetes

What is it?

Hereditary Diabetes

Diabetes mellitus (DM) is a complex metabolic disorder characterized by the onset of chronic hyperglycemia as a result of insufficient insulin secretion and/or decreased tissue response to insulin, with the risk of developing vascular complications.

Why get this screening?

Diabetes mellitus (DM) is a complex metabolic disorder characterized by the onset of chronic hyperglycemia as a result of insufficient insulin secretion and/or decreased tissue response to insulin, with the risk of developing vascular complications. As with other diseases, diabetes involves environmental (especially diet and lifestyle) and genetic factors that are very different for each type of diabetes.

From a genetic point of view, we can distinguish two main groups: polygenic diabetes and monogenic diabetes. Polygenic diabetes includes type-1 diabetes, in which there is an autoimmune destruction of the insulin-producing pancreatic β-cells of the islets of Langerhans; and type-2 diabetes, which is the most common type of DM (accounts for between 80% and 90% of diabetes cases). These two types of diabetes result from the interaction of genetic and environmental factors, so when they are studied, we talk of predisposition, not heredity.

On the other hand, monogenic diabetes (formerly known as MODY) is a heterogeneous and much less frequent group, accounting for only 5% of all cases of DM. Patients with this type of diabetes may have symptoms before age 25 and are usually misdiagnosed with type-1 or type-2 diabetes. There are different subtypes of MODY, each of which is related to a different gene. It is important to distinguish between them, since the diagnosis will condition the treatment and analysis of the risk of complications.

Currently, with our Hereditary Diabetes test, it is possible to identify MODY type diabetes, helping to prevent the disease and allowing family members at risk to be identified early.

MODY genes. Approximately 90% of MODY-type diabetes in Caucasians is caused by pathogenic variants in the GCK, HNF1A and HNF4A genes, following an autosomal dominant inheritance pattern. However, at Nuuma we have a panel that includes the genes associated with all MODY subtypes (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1 and RFX6).

Be sure to discuss the results of this test with your doctor.

** If there is a family history and a variant with clinical importance related to the pathology is identified, there is the option to carry out a directed study by providing the genetic report of the relative in whom said variant has been described when the test is requested.