Antennary fucosylation of plasmatic proteins as biomarker for HNF1A-MODY

HNF1A-MODY is one of subtypes of diabetes, caused by a mutation in the gene for hepatocyte nuclear factor 1A. To diagnose this subtype of diabetes is not simple and it is very often that patients who have this subtype of diabetes are categorised as type 1 or type 2 diabetes. The essential problem in misdiagnosing is the fact that the patients who suffer from HNF1A-MODY can receive another type of treatment which enables more accurate therapy, increases quality of life, and in the long run reduces costs related to health system and consequently, to a society in general. People with type 1 diabetes start to take exogenous insulin and this therapy is used for a lifetime. In contrast to that, persons with HNF1A-MODY react very well to antidiabetic medications, like the group of medication called sulphonylurea. It is oral therapy with pills which is sufficient for a person to control their illness simply and with success for a good part of their life. It is assumed that the portion of patients who suffer from HNF1A-MODY is 4-5% of total population of patients with diabetes, in other words, approximately 1% of population in general. Large number of young persons, especially those younger than 25 years of age, who suffer from type 1 and type 2 diabetes, represent population with high probability of being misdiagnosed. They are all potential users of diagnostic parameter for accurate diagnosing of HNF1A-MODY.

The aim of this project is to offer analysis of the antennary fucose level as a new, and at present time most successful diagnostic parameter for determining HNF1A-MODY. By including this extremely sensitive parameter (Thanabalasingham et al 2012) into algorithm for diagnosing the above mentioned subtype of diabetes, a significant progress could be achieved in accurate diagnosing of the illness. The main advantage of the analysis of antennary fucose is relatively low cost in comparison with, at the moment, the only safe method of diagnosing, and this is sequencing of the entire HNF1A gene. As part of development of this analytical test, we have established connections with several diabetologists and in collaboration, we will make key steps towards providing the analysis for our end users - patients.