Lec 2.7 Cytoskeletal Protein defects Flashcards
What is Hemolytic anemia and what does it lead to?
Fragile cytoskele of RBCs, leads to anemia
What are the two muscular dystrophies?
Duchenne and Becker
What is the dif in Duchenne vs Becker?
Duchene is complete absense of Dystrophin and Becker has dystrophin but not a lot.
What is Hereditary Spherocytosis? What is the protein that is faulty?
Hemolytic anemia that has fragile RBCs, they are not biconcave. Faulty Spectrin.
What is the Osmotic Fragility test?
Test for HS. Put blood in hypotonic saline. Cells will bursts if they have HS.
What is the treatment for HS?
Blood transfusions, splenectomy.
What are 6 clinical symptoms of DMD?
Shows symptoms at age 3. Loss ability to walk at 12. Elevated creatine kinase. Gower maneuver. Die around 20-30. No medical treatment.
What causes death in DMD?
Abnormal hearts or respiratory failure
What is the function of dystrophin?
Provide structural stability to the muscle cell membrane.
What is the structure of the Dystrophin protein?
4 domains. C rich and C terminus domains.
What are some clinical symptoms for BMD?
Loss of walk at 16. Muscle pain. Cardimyopathy. Live to 45.
What causes death in BMD?
Heart failure
How could one test to see if there is presence or absence of dystriphin?
Western blot
What are some treatment strategies for DMD?
Growth factors,gene therapy, exon skipping, nonsense codon read through.
Describe how the osmotic fragility test indicated a pt has HS?
Test for HS. Put blood in hypotonic saline. Cells will burts if they have HS.
