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GLICOGENOSI TIPO 2:

GLICOGENOSI TIPO 2:. Glicogenosi 2 (Malattia di Pompe). Frequenza: 1: 40.000 Deficit enzimatico:  -glucosidasi acida (GAA). Endoplasmic reticulum. Autophagy. Golgi apparatus. Autophagosome. Phagocytosis. Primary lysosomes. exocytosis. Secondary lysosomes. Exocytosis. Residual

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GLICOGENOSI TIPO 2:

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  1. GLICOGENOSI TIPO 2:

  2. Glicogenosi 2 (Malattia di Pompe) Frequenza: 1: 40.000 Deficit enzimatico: -glucosidasi acida (GAA)

  3. Endoplasmic reticulum Autophagy Golgi apparatus Autophagosome Phagocytosis Primary lysosomes exocytosis Secondary lysosomes Exocytosis Residual bodies Late endosome endocytosis Early endosome

  4. Endoplasmic reticulum Autophagy Golgi apparatus Autophagosome Phagocytosis Primary lysosomes exocytosis Secondary lysosomes Exocytosis Residual bodies Late endosome endocytosis Early endosome

  5. Endoplasmic reticulum Autophagy Golgi apparatus Autophagosome Phagocytosis Primary lysosomes exocytosis Secondary lysosomes Exocytosis Residual bodies Late endosome endocytosis Early endosome

  6. mutazione Glicogenosi 2 (Malattia di Pompe) Frequenza: 1: 40.000 Deficit enzimatico: -glucosidasi acida (GAA) Difetto molecolare: mutazioni del gene GAA Eterogeneità genetica: 272 mutazioni del gene GAA finora descritte (http://www.pompecenter.nl)

  7. Glicogenosi 2 (Malattia di Pompe) Frequenza: 1: 40.000 Deficit enzimatico: -glucosidasi acida (GAA) Difetto molecolare: mutazioni del gene GAA Accumulo generalizzato di glicogeno, più accentuato in: cuore muscolo scheletrico fegato

  8. Stimolazione enzimatica (enzyme enhancement) mediante chaperones farmacologici Per funzionare un enzima deve avere una struttura (“folding”) corretta

  9. Stimolazione enzimatica (enzyme enhancement) mediante chaperones farmacologici Un enzima deve maturare correttamente

  10. Endoplasmic reticulum Autophagy Golgi apparatus Autophagosome Phagocytosis Primary lysosomes exocytosis Secondary lysosomes Exocytosis Residual bodies Late endosome endocytosis Early endosome Stimolazione enzimatica (enzyme enhancement) mediante chaperones farmacologici Un enzima deve funzionare nel posto giusto

  11. Gli chaperones migliorano il “folding” di un enzima mutato Gli chaperones migliorano la maturazione dell’enzima Gli chaperones migliorano il traffico dell’enzima verso la sede corretta Stimolazione enzimatica (enzyme enhancement) mediante chaperones farmacologici

  12. Stimolazione enzimatica (enzyme enhancement) mediante chaperones farmacologici Il miglioramento del “folding”, della maturazione e del “trafficking” si traducono in un aumento dell’attività residua

  13. CH2OH CH2OH NH N OH OH OH OH OH OH CH3 Both compounds are inhibitors of glycosidases and glycosyltransferases NB-DNJ is used as substrate reducing agent in Gaucher disease IC50 for a-glucosidase 0.38 mM (DNJ) and 1.9 mM(NB-DNJ) (Andersson et al, 2004) Deoxynojirimycin (DNJ) N-butyl deoxynojirimycin (NB-DNJ)

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