Therapy for Genetic Diseases

Question 1

Phenylketonuria treatments

Answer 1

Diet of reduced phenylalanine and aspartame (phenylalanine makes up half of aspartame)
Drug that corrects misfolded protein (increases BH4 cofactor that binds to phenylalanine hydrolase)

Question 2

Mucopolysaccharidosis type 1 (Hurler syndrome) and mucopolysaccharidosis type 2 (Hunter syndrome) treatment

Answer 2

Enzyme replacement therapy: providing enzyme to break down glycosaminoglycans so they don’t build up in lysosomes

Question 3

Enzyme lacking in mucopolysaccharidosis type 1 (Hurler syndrome)

Answer 3

Alpha-L-iduronidase

Question 4

Enzyme lacking in mucopolysaccharidosis type 2 (Hunter syndrome)

Answer 4

Iduronate-2-sulfatase

Question 5

Cystic fibrosis treatments

Answer 5

Small molecule drugs stabilize misfolded CFTR protein
Gentamicin binds ribosome, enabling it to ignore the premature “stop” codon, thus producing more functional protein
PTC124 has same functions as gentamicin

Question 6

Other disease that can be treated with PTC124

Answer 6

Duchenne muscular dystrophy

Question 7

Drug treatment for sickle cell disease

Answer 7

Hydroxyurea

Question 8

Herceptin

Answer 8

Monoclonal antibody that blocks HER2 (proto-oncogene) amplification

Question 9

RNAi therapeutics: how it works

Answer 9

siRNA is taken up by RNA induced silencing complex (RISC)

RISC with guide strand binds to target mRNA (complementary to siRNA) and cleaves it

Question 10

Purpose of RNAi

Answer 10

Targeting and eliminating cellular production or proteins associated with pathogenesis and disease (ex-cancer)

Question 11

Organ transplantation: purpose

Answer 11

Donated organs lack disease-causing mutations in their genetic code, so transplantation of healthy organ cures genetic disease

Question 12

Treatment for epidermolysis bullosa

Answer 12

Bone marrow transplant: stem cells from bone marrow migrate to skin, producing normal collagen

Question 13

Mitochondrial donation

Answer 13

Prevention of mitochondrial disease

Transplantation of normal nuclei with normal mitochondria into denucleated egg

Question 14

Diseases that are good candidates for gene therapy

Answer 14

Have severe, lasting health issues
Current available therapies aren’t sufficient or therapies don’t exist
Can be corrected by manipulating a single gene target
Potential patients are available

Question 15

Complex disease treatment strategy

Answer 15

No one specific treatment, so reduce environmental risk factors
Examples: quit smoking for emphysema, exercise for cardiovascular disease, lose weight for type II diabetes, don’t drink during pregnancy for fetal alcohol syndrome