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1) you have been diagnosed with monogenic diabetes (e.g. MODY or MIDD) OR
2) there is a suspicion of monogenic diabetes, even though previous genetic testing has not identified a finding explaining the diabetes OR
3) you have GCK diabetes (GCK, i.e. glucokinase-MODY, formerly MODY2), but the condition is so mild that no further investigations have been carried out in public healthcare – please note that we cannot guarantee the timeline of the investigations, and studies during pregnancy cannot be carried out in the FINNMODY study OR
4) a close family member has been diagnosed with monogenic diabetes (e.g. MODY or MIDD), and you would like to assess possible inheritance in your own case OR
5) you wish to contact us regarding another matter related to the study
In previous years, we have also carried out basic assessments of diabetes type through the FINNMODY study. However, recognition of monogenic diabetes has improved across Finland, and we no longer carry out these assessments through the FINNMODY study.
MODY (abbrevied for Maturity Onset Diabetes of the Young) comprises a group of monogenic diabetes arising from pathogenic variants (or mutations) in one of known MODY genes.
Glucokinase-MODY and HNF1A-MODY are the two most common subtypes of MODY. A mild subtype of MODY, glucokinase-MODY, might remain undiagnosed for decades, as the symptoms are generally mild or non-existent. The life-spanning feature of glucokinase-MODY is to have a constantly elevated fasting glucose level. Other subtypes of MODY usually emerge later in life; patients are typically young at diagnosis. Many MODY patients – but not all – present with a strong family history of diabetes (several relatives with diabetes). As MODY is quite rare (about 1-2% of all diabetes), some patients remain undiagnosed or misdiagnosed as type 1 or of type 2 diabetics. Today, the number of known MODY genes has exceeded 10.
In glucokinase-MODY, fasting plasma glucose level is constantly elevated (5.5-8 mmol/l). HbA1c rarely increases markedly. The initiation of antihyperglycemic agents is unnecessery to treat fasting hyperglycemia in glucokinase-MODY. With non-existent to mild symptoms, hyperglycemia is often revealed in routine screening.
Glucokinase (GCK) is the enzyme which sensors glucose level in pancreatic beta cells. If glucose reaches the threshold of the enzyme, the pancreas releases its insulin. MODY variants (=mutations) in GCK raise this threshold level.
In early stages of HNF1A and HNF4A, fasting glucose can remain relatively normal for years. Hyperglycemia is initially evident post-prandially (=after the meals) only. Both HNF1A- and HNF4A-MODY present with insulin deficiency, which is milder than in type 1 diabetes. A core component of diet is to balance carbohydrate content of meals. Some patients rely on glidines (“meal tablets”) which release insulin from the pancreas. DPP4 inhibitors might alleviate hyperglycemia. At times, fast-acting insulin is initiated. No placebo-controlled drug trials, however, exist so far. The long-affecting insulin is less often required, as it readily causes hypoglycaemia among the patients (=too low a blood glucose).