It’s common knowledge that diabetes runs in certain families and that some people do not realize that multiple genes might increase the chance of developing type 2 and type 1 diabetes.
Therefore, doctors refer to these both types of diabetes as polygenic since often a few genes contribute to the risk for the development of the conditions. But you should also know that a mutation in one gene can lead to diabetes.
To be more precise it can lead to monogenic diabetes. This type of diabetes accounts for 1 percent – 5 percent of all diabetes cases. The ADA, i.e., American Diabetes Association notes that commonly it affects young adults, infants, and children.
But, according to research around 80 percent of all cases of this type of diabetes go unnoticed.
Although this type is uncommon, I might lead to severe health issues if left untreated. Usually, this condition is confused as type 1 diabetes or is undiagnosed. This might be problematic in case someone that has this condition does not get the right treatment.
You should know that this term monogenic diabetes does not describe insulin resistance and its manifestation or one form of diabetes. This term describes a huge variety of rare and potentially severe diabetic disorders.
These disorders occur by one abnormality which might happen in a variety of genes. One’s type of monogenic diabetes depends on a certain gene which carries the mutation.
Furthermore, identifying the faulty gene can play a crucial role in helping the doctor to determine the treatment plan for the patient.
This condition divides into 2 big categories. Those are NDM, i.e., neonatal diabetes mellitus and MODY, i.e., maturity-onset monogenic diabetes or maturity-onset diabetes of the young.
NDM is actually a monogenic diabetes form which develops in the first six months of life, and this is actually a very rare condition.
It can easily be mistaken for type 1 diabetes. However, it is crucial to know that type 1 diabetes usually develops later and not in the first six months of life.
Furthermore, this condition is transient and comes to an end during infancy however it can reappear later. The name of this NDM form is TNDM, i.e., transient neonatal diabetes mellitus.
The symptoms of NDM are dehydration, thirst, and frequent urination. You can diagnose NDM by finding increased levels of sugar in urine or blood.
This type of diabetes usually occurs later in childhood, young adulthood or puberty. Moreover, the scientists have identified around 11 genes responsible for the different kinds of MODY.
In fact, the most common forms of monogenic diabetes are in the MODY category. Also, most people that have MODY get their diagnosis by age 25. Each of the 11 MODY-causing genes might have different symptoms and signs which demand different treatments.
MODY might be confused with type 2 or type 1 diabetes. In general, people that have MODY do not have risk factors for the development of type 2 diabetes like abnormal blood fat levels and high blood pressure and are not overweight.
The researchers found a new form of monogenic diabetes caused by a gene mutation. RFX6 is the name of this gene mutation. It seems to develop because of deficiency of GIP, which is an insulin-stimulating hormone.
As a matter of fact, when we eat, the intestines stimulate the production of this hormone, and it helps signal insulin release. Anyone that has RFX6 is at risk for diabetes.
According to the researchers, in this study, 80 % of the participants with the gene mutation has developed diabetes by the age of 50. Also, because to the rare-variant association testing, the scientists were able to identify this gene mutation.
According to the authors of the study, there is a need for more research. This is necessary in order to provide better care to people with different kinds of diabetes that need different treatment approaches.
Multiple genes can lead to monogenic diabetes. Therefore genetic testing might help the doctors to identify the form and make a treatment plan. The same as other diabetes forms, having a family member with this condition might increase the risk.
In addition, experts recommend families and children with diabetes diagnosis before the age of 25 and whose families have been affected by that for 2-3 generations to ask their doctors to get tested.