Unveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b

  • 2 Years 2018/2020
  • 158.400€ Total Award
Glycogen storage disease type 1 (GSD1) is a metabolism disorder characterized by glycogen storage (glucose deposit molecule) at the level of many organs such as liver, kidneys and endocrine glands. Disease occurs very soon in life with excessive glycogen storage in the tissues and consequent enlargement of the spleen and convulsions caused by hypoglycaemia (very low blood sugar levels). Within the various forms of glycogenosis there is the type I (b) (GSD1b) type which is also characterized by immune system disorders that involve a high frequency of infections and autoimmune diseases that compromise the quality of life and survival of the These patients. The aim of our project is to study immunologically with which mechanisms the immune system cells of patients with GSD1b are malfunctioning and cause a higher frequency of autoimmune diseases such as rheumatoid arthritis, autoimmune thyroiditis and Crohn's disease. The study will be conducted on the lymphocytes of these subjects in order to understand how the glucose use deficiency may be related to the inability of these subjects to control immunological tolerance and hence the onset of autoimmune diseases. Our experimental approach should enable us to understand the mechanism leading to the breakdown of immune tolerance in patients with GSD1b. Since we have shown that it is possible through the modulation of the sugar pathway (glycolysis) to restore the normal function of the lymphocytes that control autoimmune processes, our studies should have rapid clinical applicability and improve not only survival but also the quality of life of subjects with GSD1b.

Il tuo browser non è più supportato da Microsoft, esegui l'upgrade a Microsoft Edge per visualizzare il sito.