7: Genetic treatments

Question 1

Treatment of Inborn errors of metabolism

Answer 1

Treatment by replacement
others : GH, and range of enzymes for other disorders e.g Fabry, Pompe

Question 2

Inborn errors of metabolism

Answer 2

disorders where a substrate cannot be converted into a product

Question 3

In Phenylketonuria

Answer 3

phenylalanine cannot be broken down, treatment is to avoid Phe

Question 4

In Haemophilia

Answer 4

lack of factors VII and or IX mean they must be physically replaced

Question 5

Pharmacological chaperones-

Answer 5

some mutations prevent proteins folding properly
e.g Fabry disease, caused by a-galactosidase A deficiency
Migalasat = small chaperone molecule that stabilises enzyme in correct shape

Question 6

Exmaples of protein targetting treatments

Answer 6

Pharmacological chaperones
Pharmacological modulators
combination therapies
Stop codon read through drugs

Question 7

Pharmacological modulators

Answer 7

Receptor agonists / antagonists
Ion channel activators/ blockers

Question 8

Example of a disease treated with Combination therapies

Answer 8

Cystic fibrosis

Question 9

How does stop codon reading through drugs work

Answer 9

DMD is due to premature stop, can be converted to BMD by preventing stop being misread

Question 10

Gene therapy of Mitochondrially inherited diseases

Answer 10

Requires IVF and normal mitochondria from donor

Question 11

Viral gene therapy

Answer 11

virus engineered to carry a therapeutic gene

Question 12

Anti-sense oligonucleotides and gene silencing

Answer 12

Prevent production of targeted proteins, effective in neurological disorders
-CRIPSR and RNAi additional methods but less practiced

Question 13

CAR-T Therapy

Answer 13

T cells removed, modified to recognise cancer cells and re-infused