Genetic Prevention for Familial Diabetes

Module PRV09

With our module Familial Diabetes, we examine genes associated with a higher risk of developing familial diabetes mellitus. If gene variants are detected early, preventive measures can be implemented.

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What is Diabetes?

Diabetes mellitus describes a group of diseases associated with elevated blood glucose levels. There are different types of diabetes, such as type 1 diabetes, type 2 diabetes, or MODY (Maturity-Onset Diabetes of the Young).

Insulin unlocks the channels for glucose uptake.

Figure 1: When the messenger insulin binds to a cell, glucose channels open, allowing sugar to be absorbed into the cells.

All these types have hyperglycemia (elevated blood glucose levels in the blood) in common. This can be caused through lacking or missing release of the metabolic hormone insulin from the beta-cells of the pancreas. Insulin is called the “key”, that enables the uptake of glucose into the cells (figure 1).

In healthy humans, insulin is always present at a low level to ensure the energy supply of the cells. After meals, the insulin level rises to be able to take up the glucose from the nutrition. If there is not enough or no insulin at all, the glucose uptake is limited. Instead, the blood glucose level rises.

Other factors than a reduced insulin production can also be responsible for a diabetic metabolism, e.g. the impaired uptake of glucose into the body cells at a normal insulin level (insulin resistance). Here, the cells react less sensitively to insulin, which can significantly limit its effect.

Genetics plays a key role in the development of familial diabetes. In our module Familial Diabetes the focus lies on the MODY type (Maturity-onset diabetes of the young). This is a hereditary disease that can be diagnosed in youth or in adulthood and often is not accompanied by obesity.

The disease can go unnoticed at the beginning, as an elevated sugar level often does not cause any noticeable symptoms at first. During the course of the disease, dependent on the blood glucose levels, microvascular complications like damage of the kidneys, eyes, and nerves can occur (figure 2). Also, in case of gestational diabetes, one should consider the presence of a genetically caused familial diabetes.

Consequences of diabetes

Figure 2: Secondary diseases of diabetes.

Field Report

Markus G., 35 years old

Lifestyle: healthy diet, little exercise due to office work

Result: the preventive genetic test discovered a higher risk for diabetes (type MODY) for Markus G. due to a variant in the gene PDX1.

Consequence: Markus G. adapted his lifestyle. He pays attention to his diet and exercises two to three times a week. If necessary, he can be supported by medication.

“I was already sensitized to the topic of diabetes through my environment. I was therefore interested in finding out whether I was at an increased risk of developing it myself. With the Prevention Panel, I was able to determine that I have a predisposition to MODY diabetes even without symptoms. I now pay more attention to my diet and exercise more often. I also have my blood glucose level measured regularly as a precaution so that I can take early countermeasures with my doctor if I have elevated levels.”

Markus G. has an increased risk of diabetes.

How Does Genetic Risk Assessment Work?

In the module Familial Diabetes, eight genes are tested associated with a higher risk of developing familial diabetes mellitus. If these are detected early, respective preventive measures can be taken.

Depending on the form of the disease, any necessary therapy may consist of lifestyle adjustments such as a change in diet and/or, if required, drug therapy.

Gene Set

Familial Diabetes (PRV09, 8 Genes)

ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, PDX1

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