Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
12 Cards in this Set
- Front
- Back
|
What are the 4 roles of lysosomes?
|
- degrade macromolecules
- membrane repair - secretory functions - remove certain pathogens |
|
|
How do enzymes get into lysosomes?
|
- synthesied and glycosylated in ER
- into cis golg - M6P is added - transported to late endosome via M6P receptor - M6P receptor recycled - Enzyme goes to mature lysosome |
|
|
What are 5 common clinical features of lysosomal storage disease?
|
- dvp delay
- limb/bone pain - coarse facial features - contractures - hepatosplenomegaly |
|
|
Why is LSD difficult to diagnose? (5)
|
- variability in severity
- variability in onset - non-specific symptoms - hidden pathology - rare diseases |
|
|
What are 5 treatments/possible treatments?
|
- Stem cell transplant
- gene therapy - enzyme replacement therapy - reduce substrate - fix enzyme |
|
|
What are the 3 major organ systems that are mainly affected?
|
- brain
- bone/connective tx - reticuloendothelial system (liver/spleen) |
|
|
How are LSD diagnosed?
|
-urine for substrate
- bony abnormalities - enzyme assay*** |
|
|
Discuss stem cell transplantation
|
- before 2 years/CNS symptoms for best outcome
- significant risk |
|
|
What are the technical and clinical challenges of enzyme replacement therapy?
|
- enzyme availability (short half life, <1% available)
- resistant tx compartments - weekly infusions - immunologic reactions - knowing what are good testable endpoints to determine success |
|
|
What are some limitations of enzyme replacement therapy?
|
- does not cross blood brain barrier
- not fix damage - life long infusions - expensive |
|
|
Discuss therapy to reduce substrate
|
- decreases production of substrate
- oral therapy - cheap |
|
|
How can the enzyme be fixed?
|
- use chaperone proteins to fold protein proerly so it can leave the ER and go to golgi
|
