More Accurate Diagnosis Of Rare Diabetes Might Be A Possibility Now

In Vilnius, a group of scientists and medical researchers have conducted a new study about diabetes. The scientists and medical researchers hail from the University Of Geneva (UNIGE), the University Hospitals of Geneva (HUG), and the Lithuanian University of Health Sciences.

This study found accurately identified 1,200 young diabetics, suffering from monogenic diabetes. This type of diabetes is rare and is difficult to diagnose. However, if the findings of new study come to be accepted as accurate and adopted as standards, then there will be a new way available to diagnose all forms of diabetes more accurately. Once the patients suffering from monogenic diabetes were identified, the treatments were adjusted according to the genetic characteristics of the disease in order to improve patients’ quality of life.

Type 1 diabetes and Type 2 diabetes are the two best known forms of diabetes. Type 2 is often associated with obesity. On the other hand, Type 1 is an autoimmune ailment where the immune system destroys the insulin-producing pancreatic beta cells. The scientists are studying a unique form of diabetes called “monogenic”. Monogenic diabetes is caused by a mutation in a single gene. In most cases, these mutations prevent the beta cell from functioning properly and the ailment often manifests during adolescence. Sometimes, however, the pancreas simply does not develop. In such situation, insulin has to be administered to babies as soon as they are born.

Usually, monogenic diabetes goes undiagnosed because its clinical features are quite similar to other forms of diabetes. Despite comparable symptoms, the cause is different. Valérie Schwitzgebel, co-coordinator of the Diabetes Centre of the UNIGE Faculty of Medicine, professor at the Department of Paediatrics, Gynaecology & Obstetrics and Head of the Paediatric Endocrinology and Diabetology Unit at the HUG is leading the group conducting the study. She says:

Lithuania has a register of all diabetic children, which also includes most of the young adults! We have thus carried out a large-scale epidemiological and population study!

Eleven new genes have been identified and they can be used in the treatment of diabetes. First, the team evaluated the presence of autoimmune antibodies that are known markers of type 1 diabetes, in the 1209 children and young adults. After that, a complete genetic analysis was carried out on the 153 patients who did not have these antibodies. Some patients also had only anti-insulin antibodies, which can also develop from insulin treatment.