CONICET | Buscador de Institutos y Recursos Humanos

MODY type diabetes is characterized by mutations in different genes. This gives it an autosomal inheritance mode with dominant characteristics. These patients differ from classical diabetics because of their pathogenesis, treatment and prognosis, although they are often incorrectly diagnosed and poorly treated with the consequent deterioration of their quality of life.In order to correctly diagnose these patients and thus be able to give them a treatment focused on the specific pathogenesis of their disease, we have carried out the study of mutations in the HNF4A, GCK, HNF1A and HNF1B genes that cause types 1, 2, 3 and 5 of MODY respectively. The studies were performed by means of Sanger sequencing of the coding regions of the HNF4A, GCK, HNF1A genes and by new generation sequencing (NGS) on the HNF1B gene. These genes have been reported as responsible for the majority of MODY cases worldwide.Of the total of 185 unrelated patients analyzed with clinical characterization of any of the subtypes, 4 MODY1, 61 MODY2, 20 MODY3 and 3 MODY5 were diagnosed. The rest could not be diagnosed and were classified as MODYX. Likewise, we have made the diagnosis in both parents when they were available and other relatives with characteristics of Diabetes given the type of inheritance.In this way, we have been able to diagnose a group of patients with a particular type of Diabetes that requires specific treatment and follow-up. In addition, genetic counseling has been made to family members, which results in an improvement in the quality of life in them and an efficiency improvement of the resources necessary for their treatment and monitoring.In some patients diagnosed with MODY, the treatment has been reoriented, advising the intervening doctors, when these patients were treated as classic diabetics, since this produces a worse prognosis due to poor glycemic control.