Gene Therapy

Question 1

diseases with loss of muscle mass (12)

Answer 1

cancer, sarcopenia, trauma, immobilisation, neuromuscular disorders, burns, sepsis, drugs, AIDS, diabetes, chronic renal failure, heart/lung disease

Question 2

therapy attributes (8)

Answer 2

works, deliverable, tolerable, efficient, low risk/side effects, sustainable, scalable, affordable

Question 3

what does it mean when a therapy works (2)

Answer 3

functional product and physiologically benefits cells/tissues

Question 4

how can patient tolerance be controlled (2)

Answer 4

effects and doseage

Question 5

what needs to be kept in mind for efficiency (2)

Answer 5

wide dose and safety window

Question 6

what side effects need to be considered (2)

Answer 6

acute and long term

Question 7

what is a gene therapy

Answer 7

delivering DNA/RNA to correct/compensate

Question 8

what does it need to do? is considered in

Answer 8

construct design

Question 9

where does it need to go? must consider (2)

Answer 9

vector configuration and delivery

Question 10

types of constructs (4)

Answer 10

express replacement/supplemental gene, modify translation, genome modification/repair, silence gene expression, modify cellular process to compensate

Question 11

DMD prevalence

Answer 11

1:3500 male births

Question 12

who are carriers in DMD

Answer 12

females

Question 13

what deterioration is seen in DMD (3)

Answer 13

debilitating limb weakness, respiratory/cardiac failure, no cure

Question 14

what dystrophin is absent

Answer 14

427kDa

Question 15

how many dystrophin promoters

Answer 15

7

Question 16

how many dystrophin exons

Answer 16

79

Question 17

there are multiple what associated with dystrophin

Answer 17

alternate isoforms

Question 18

what % of DMD is novel

Answer 18

> 30%

Question 19

muscle features (6)

Answer 19

muscle, muscle fiber, T tubule, myofibril, myofilament, sarcomere

Question 20

dystrophin associated proteins (10)

Answer 20

dystrophin, actin cytoskeleton, dystrobrevin, syntrophin, nNOS, dystroglycan, SG, SPN, laminin, collagen

Question 21

syntrophin and nNOS complexes are located on (2)

Answer 21

dystrophin and dystrobrevin

Question 22

SG subunits (4)

Answer 22

alpha, gamma, delta, beta

Question 23

dystroglycan subunits (2)

Answer 23

alpha and beta

Question 24

dystrophin directly associates with

Answer 24

dystroglycan

Question 25

SG directly associates with (2)

Answer 25

dystroglycan and SPN

Question 26

dystrophin genetic elements (7)

Answer 26

actin binding domain 1, hinge, actin binding domain 2, spectrin like repeats, WW, CR, CT

Question 27

which nuclei in muscles are missing dystrophin in DMD

Answer 27

all of them