Finals part III

Question 1

Hemophilia B

Answer 1

• Fibrin not produced

- Missing factor IX of coagulation pathway

Question 2

Hemophilia A

Answer 2

• Fibrin not produced

- missing factor VIIIa of coagulation pathway

Question 3

3 stages of coagulation

Answer 3

1) platelets attach to endothelium
2) platelets start to release fibrin and begin to seal endothelium
3) fibrin network traps RBSs and seals endothelium

Question 4

Down syndrome

Answer 4

-caused by nondisjunction at chromosome 21 (HSA21q)

Question 5

Down syndrome symptoms

Answer 5

• slanted eyes
• flattened nose
• short neck
• Alzheimer like symptoms in 75% of DS patients older than 60

Question 6

Down syndrome treatment

Answer 6

Hedgehog agonist therapy shown to improve cognitive function in mice with DS

Question 7

Hemophilia symptoms

Answer 7

• x-linked recessive disease characterized by inability to properly form blood clots
• bleeding into soft tissues, muscles, and weight bearing joints

Question 8

Hemophilia treatment

Answer 8

• liver transplantation
• blood transfusion
• standard treatment; replacement of deficient factor

Question 9

FISH

Answer 9

labeling by incorporating nucleotide with attached fluorophore

Question 10

GI Anthrax Symptoms

Answer 10

• soar throat
• headache
• nausea
• diarrhea
• vomiting

Question 11

Cutaneous Anthrax Symptoms

Answer 11

-sore, develops into raised bump and develops into painless ulcer with black center

Question 12

Inhalation Anthrax Symptoms

Answer 12

• Flu like symptoms
• fever
• cough
• chest discomfort
• vascular leakage

Question 13

Von WIllebrand Disease

Answer 13

• 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

Question 14

Cause of Anthrax

Answer 14

• Bacteria; Bacillus Anthracis(gram+)

- two plasmids necessary for infectivity; PXO1 and PXO2

Question 15

PXO1 plasmid codes for..

Answer 15

-Edema and Lethal Toxins

Question 16

PXO2 codes for…

Answer 16

-Poly-D-Glutamic Acid encoding gene; important for protection

Question 17

Edema and Lethal Toxins

Answer 17

• 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)

Question 18

What protease activates Protective Antigen via cleavage?

Answer 18

Furin

Question 19

What cellular factor is required to activate Edema Factor?

Answer 19

Calmodulin

Question 20

Infarction

Answer 20

tissue death

Question 21

Myocardial Infarction

Answer 21

heart muscle death

Question 22

Ischemia

Answer 22

Depleted oxygen and nutrients(not cell death)

Question 23

Hypertrophic Cardiomyopathy

Answer 23

pathological overgrowth of heart muscle

Question 24

Cause of Heart Disease

Answer 24

multifactorial disease;

• diet, exercise, genetics
• misfolded protein in the enlarged heart

Question 25

Treatment for Heart Disease

Answer 25

-Gene therapy targeting Hrd1 gene; | codes for HMG-CoA reductase Degradation Protein 1; ER membrane protein that degrades misfolded proteins

Question 26

Cystic Fibrosis and symptoms

Answer 26

CF is an autosomal recessive disorder in caucasian population(CFTR gene on chromosome 7)

Question 27

Cystic Fibrosis Symptoms

Answer 27

- mucus obstructed airways and bacterial infections - In GI system; blocked pancreatic ducts, decreased pancreatic enzymes, intestinal blockage, poor weight gain, pancreatitis

Question 28

Cause of Cystic Fibrosis

Answer 28

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

Question 29

Treatment for Cystic Fibrosis

Answer 29

Therapy; clearance of pulmonary secretions, control of infection, pancreatic enzyme replacement, adequate nutrition, prevention of intestinal obstruction Drugs; Pulnozyme(bronchodilator) and Hypertonic solution

Question 30

CFTR

Answer 30

- a ATP dependent (cAMP activated) chloride channel - TMD1 and TMD2; transmembrane proteins - NBD1 and NBD2; nuclear binding domain

Question 31

CFTR(delta)F508 mutant

Answer 31

- Protein does not fold properly, misfolded proteins get degraded in cytoplasm - ERAD; ER associated degradation

Question 32

Potential treatment for CFTR(delta)F508 mutant

Answer 32

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

Question 33

Cystic Fibrosis Treatment

Answer 33

Ivacaftor; makes inactive CFTR channels in people Lumacaftor; restores CFTR function in people homozygous for F508del-CFTR, suppresses protein folding defects in F508del-CFTR

Question 34

Cholera Symptoms

Answer 34

-Severe Diarrhea, abdominal cramps, and vomiting