Maturity onset diabetes of the young - Review

Abstract

Recent years brought many studies on Maturity Onset Diabetes of the Young (MODY), as it has been distinguished as a different subtype of diabetes. It is characterized by early onset and autonomic dominant inheritance of some gene mutations that lead to the β-cell dysfunction. Therefore investigations are done to describe the most common mutations connected with the disease. As for now there are 6 types of MODY according to the affected DNA region. It is also hard to estimate the real prevalence of MODY due to the difficult, expensive diagnosis and often a very similar phenotype to type 2 diabetes mellitus, however it is assumed to be about 1% of all diabetic patients below 25 years old and MODY 3 seems to be most common. Efforts are being made to find any biochemical marker for this disease. Apolipoprotein M might become one, but more studies need to be done on this topic. Recent genetic investigations show many new, undescribed mutations in the HNF-1α gene (MODY 3) and revealed also a possibility of existence of some other MODY types (MODY X). A proper diagnosis is of great value for prognosis and treatment decisions and that is the reason why young lean patients with no type 1 diabetes should be more carefully examined and more studies should be done. Copyright © 2006 Via Medica.