Finals part III Flashcards
Hemophilia B
- Fibrin not produced
- Missing factor IX of coagulation pathway
Hemophilia A
- Fibrin not produced
- missing factor VIIIa of coagulation pathway
3 stages of coagulation
1) platelets attach to endothelium
2) platelets start to release fibrin and begin to seal endothelium
3) fibrin network traps RBSs and seals endothelium
Down syndrome
-caused by nondisjunction at chromosome 21 (HSA21q)
Down syndrome symptoms
- slanted eyes
- flattened nose
- short neck
- Alzheimer like symptoms in 75% of DS patients older than 60
Down syndrome treatment
Hedgehog agonist therapy shown to improve cognitive function in mice with DS
Hemophilia symptoms
- x-linked recessive disease characterized by inability to properly form blood clots
- bleeding into soft tissues, muscles, and weight bearing joints
Hemophilia treatment
- liver transplantation
- blood transfusion
- standard treatment; replacement of deficient factor
FISH
labeling by incorporating nucleotide with attached fluorophore
GI Anthrax Symptoms
- soar throat
- headache
- nausea
- diarrhea
- vomiting
Cutaneous Anthrax Symptoms
-sore, develops into raised bump and develops into painless ulcer with black center
Inhalation Anthrax Symptoms
- Flu like symptoms
- fever
- cough
- chest discomfort
- vascular leakage
Von WIllebrand Disease
- most common coagulation disorder
- caused by deficiency/defect in VWF
- VWF normally causes adhesion of platelets to subendothelial collagen, primarily through the glycoprotein Ib on platelets
- affects 1-2% of US population
Cause of Anthrax
- Bacteria; Bacillus Anthracis(gram+)
- two plasmids necessary for infectivity; PXO1 and PXO2
PXO1 plasmid codes for..
-Edema and Lethal Toxins
PXO2 codes for…
-Poly-D-Glutamic Acid encoding gene; important for protection
Edema and Lethal Toxins
- Must associate with protective antigen to get into cell
- Edema toxin(activated by calmodulin) increase cAMP production
- Lethal toxin cleaves MAPK which stops cell survival factor from being produced(more cell apoptosis)
What protease activates Protective Antigen via cleavage?
Furin
What cellular factor is required to activate Edema Factor?
Calmodulin
Infarction
tissue death
Myocardial Infarction
heart muscle death
Ischemia
Depleted oxygen and nutrients(not cell death)
Hypertrophic Cardiomyopathy
pathological overgrowth of heart muscle
Cause of Heart Disease
multifactorial disease;
- diet, exercise, genetics
- misfolded protein in the enlarged heart
Treatment for Heart Disease
-Gene therapy targeting Hrd1 gene;
codes for HMG-CoA reductase Degradation Protein 1; ER membrane protein that degrades misfolded proteins
Cystic Fibrosis and symptoms
CF is an autosomal recessive disorder in caucasian population(CFTR gene on chromosome 7)
Cystic Fibrosis Symptoms
- mucus obstructed airways and bacterial infections
- In GI system; blocked pancreatic ducts, decreased pancreatic enzymes, intestinal blockage, poor weight gain, pancreatitis
Cause of Cystic Fibrosis
Mutation is CFTR gene; defective CFTR protein causes insufficient Cl- and HCO3- in extracellular environment, causing molecules to adhere to each other and remain condensed and viscous
-CFTR(dela)F508 most common mutant
Treatment for Cystic Fibrosis
Therapy; clearance of pulmonary secretions, control of infection, pancreatic enzyme replacement, adequate nutrition, prevention of intestinal obstruction
Drugs; Pulnozyme(bronchodilator) and Hypertonic solution
CFTR
- a ATP dependent (cAMP activated) chloride channel
- TMD1 and TMD2; transmembrane proteins
- NBD1 and NBD2; nuclear binding domain
CFTR(delta)F508 mutant
- Protein does not fold properly, misfolded proteins get degraded in cytoplasm
- ERAD; ER associated degradation
Potential treatment for CFTR(delta)F508 mutant
Hrd1 allows misfolded proteins to get out into cytoplasm
-The mutant protein is an active protein that can facilitate Cl- transport to some degree if it is expressed in the membrane
Cystic Fibrosis Treatment
Ivacaftor; makes inactive CFTR channels in people
Lumacaftor; restores CFTR function in people homozygous for F508del-CFTR, suppresses protein folding defects in F508del-CFTR
Cholera Symptoms
-Severe Diarrhea, abdominal cramps, and vomiting
