1 / 9

Disorders Resulting from Defeats in Lysosomal Function

Disorders Resulting from Defeats in Lysosomal Function. Other lysosomal storage diseases. Disease: Gaucher’s disease. Glucocerebrosidase ( 葡糖脑苷脂酶 ). Enzyme Deficiency:. Principal Storage Substance:. Glucocerebroside ( 葡糖脑苷脂 ). Consequences:.

santos
Download Presentation

Disorders Resulting from Defeats in Lysosomal Function

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Disorders Resulting from Defeats in Lysosomal Function

  2. Other lysosomal storage diseases

  3. Disease: Gaucher’s disease Glucocerebrosidase (葡糖脑苷脂酶 ) Enzyme Deficiency: Principal Storage Substance: Glucocerebroside (葡糖脑苷脂) Consequences: Liver and spleen（脾） enlargement,erosion of long bones,mental retardation（迟缓） in infantile form only

  4. If the victims of this disease have been successfully treated ? yes How? The scientists tell us by enzyme replacement therapy

  5. Treated the enzyme with three different glycosidases（糖苷酶） Exposed underlying mannose residues（甘露糖残基） Recognized by mannose receptors on the surface of macrophages（巨噬细胞） Taken up by receptormediated endocytosis （受体介导的胞吞作用） Delivered the enzymes to the lysosomes

  6. Disease: Fabry’s disease Enzyme Deficiency: α-Galactosidase A 　　半乳糖苷酶 Principal Storage Substance: Trihexosylceramide（） Consequences: Skin rash（疹）,kidney failure,pain in lower extremities（四肢）

  7. Many patients with lysosomal storage diseases carry a mutation that destabilizes the encoded enzyme and causes it to misfold. This misfolded proteins are recognized and destroyed,which is the reason these individuals lack the enzyme. Now , the scientists have found a good way to treat the patients

  8. Any competitiveinhibitors（抑制剂 ）of the enzyme α–galactosidase A (for example Galactose) Bind to the enzyme’s active site and hold the mutant enzyme in a native-like structure that enables it to avoid destruction in the ER Departed the ER and transported to lysosomes

  9. Thanks

More Related