Treatment of Genetic Disease Flashcards Preview

M2M Unit II > Treatment of Genetic Disease > Flashcards

Flashcards in Treatment of Genetic Disease Deck (45):
1

When should you genetically test a child?

when there is action to be taken in the present time

2

What are the challenges to curing single gene mutations?

1) cannot remove, silence, or regulate single genes (en vivo) 2) cannot insert single genes (en vivo)

2

Urea cycle deficient patients use _____; hypercholesterolemia heterozygotes can receive ____.

sodium benzoate; oral resins

2

Intracellular proteins are targeted to treat which 2 diseases?

1) Gaucher disease 2) Fabry disease

3

What is gene therapy?

introduction of DNA or RNA into human cells to treat disease

4

Dietary restriction is a treatment used in _____ and ______.

PKU; galactosemia

5

Diversion is a treatment strategy for _____ and ____ patients.

urea cycle deficient; hypercholesterolemia

5

What are 2 approaches to gene therapy?

1) non-viral 2) viral

6

What is a drawback to cofactor administration?

50% of patients respond

7

Pts with G6PD deficiency and acute intermittent porphyria should avoid ______ and _______.

antimalarial drugs; barbituates

8

What are the challenges to curing chromosomal mutations?

1) cannot remove, silence, or regulate extra chromosome material 2) cannot insert missing material

8

Replacement therapy is an intervention used to treat _____ and _____.

hypothyroidism; bitinidase deficiency

9

________ and ________ gene therapy approaches can use large insertions.

Adenoviral; non-viral

10

What is an advantage to adenoviral gene therapy?

wide variety of cell types can be infected; size can be large; stable and easy to get high titers

11

What is a drawback to replacement of intracellular protein?

cost

12

Transient expression is a problem in ________ and _______ gene therapy approaches.

adenoviral; non-viral

13

Name 4 methods of treating diseases at the level of the mutant protein.

1) cofactor administration 2) replace extracellular protein 3) replace intracellular protein 4) target intracellular protein

13

What disease do farnesyl transferase inhibitors treat?

Progeria

13

What do viral approaches to gene therapy use?

1) oncoretrovirues 2) lentiviruses 3) AAVs

14

Inhibition is used to treat pts with ______.

hypercholesterolemia

15

Which approaches to gene therapy are short lived?

adenoviral and non-viral

17

What drugs are used to inhibit hypercholesterolemia?

statins

17

__________ is used to deplete cholesterol in hypercholesterolemia patients.

LDL apheresis

19

Name 3 broad types of DNA mutations.

1) chromosomal 2) single gene 3) complex

21

What are the challenges to curing complex gene mutations?

1) cannot remove, silence, or regulate multiple genes 2) cannot insert multiple genes 3) gene-environment interactions not fully understood

21

What does G6PD stand for?

glucose-6-phosphate dehydrogenase

22

What is an example of an indirect therapy for a metabolic disorder?

treatment of PKU with diet

23

PKU and galactosemia should avoid ingesting _____ and _____, respectively.

phenylalanine; galactose

24

Intracellular protein replacement therapy is used to treat what disease?

ADA deficiency

26

Name 2 examples of diseases treated with cofactor administration.

1) pyridoxine-responsive homocyctinuria 2) biotinidase deficiency

28

Depletion is a technique used to treat ________.

hypercholesterolemia

30

Genetic _____ are rare, but many genetic diseases can be ______ on some level.

cures; managed

32

_____ is the replacement enzyme in hypothyroidism; _____ is replaced in biotinidase deficient pts.

Thyroxine; biotin

33

What 3 treatment strategies can be used to treat hypercholesterolemia?

1) diversion 2) inhibition 3) depletion

34

Which is the safest approach to gene therapy and why?

non-viral b/c it doesn't integrate into the genome

35

What is a disadvantage to non-viral gene therapy?

low efficiency; transient expression

36

What's the idea behind gene therapy?

introduction of a gene and its product should cure or slow down disease progression

37

Avoidance is an intervention used to treat ____ and ____.

G6PD; acute intermittent porphyria

40

What is LDL apheresis?

similar to dialysis, it is a treatment used to eliminate LDL from the bloodstream

40

What is an advantage to non-viral gene therapy?

insert size can be very large; can deliver mini-chromosomes; minimal host immune response

41

What is a disadvantage to retroviral gene therapy?

small insert size; can only infect dividing cells

42

What is a disadvantage to adenoviral gene therapy?

doesn't integrate into genome; transient expression; risk of malignant transformation

43

What is an advantage to retroviral gene therapy?

it integrates into the cell genome w/ minimal host immune reactions

44

Name 2 examples of replacement extracellular proteins.

1) factor VIII in hemophilia 2) alpha-1-antitrypsin

45

What do non-viral approaches to gene therapy use?

1) naked DNA 2) liposomes