Genetic Treatments

Question 1

What is a pharmacological chaperone?

Answer 1

In order for a protein to be folded correctly chaperone proteins aid this process, if there is a mutation sometimes the protein doesn’t fold. SO

We use some artificial chaperone proteins to stabilise the enzyme causing the protein to fold.

Question 2

What is a pharmacological modulators?

Answer 2

If a mutation occurs causing in for example a chloride channel not to open. We use a drug which causes the channel to open. Normally these drugs are activators or inhibitors

Question 3

What is combination therapy?

Answer 3

Use of more than one drug simultaneously, for example using both an activator and a pharmacological chaperone.

Question 4

What is a non-sense mutation?

Answer 4

Premature stop codon mutation shortening the protein length

Question 5

What type of medication can be used to treat a non-sense mutation?

Answer 5

Amino glycosides - Could be used in DMD to stop it but still causes BMD a less aggressive BMD

Question 6

What does 
In Vivo,
EX Vivo,
In Vitro
Mean?

Answer 6

In Vivo means in the patient - direct treatment
Ex Vivo - taking cells out of the patient and treating g them and then replacing the cells
Ex vitro in glass

Question 7

What is Severe combined immune deficiency?

Answer 7

PAtient lacks both B-cells and T-cells - Can be treated by bone marrow transplant (carries risks) -

Question 8

How is SCID treated by gene therapy?

Answer 8

Strimvelis 
Autologous transplant 
Isolate patients Hemopoietic stem cells 
Isolate and expand CD34+ 
Transfected with ADA – lentivirus 
Grow transformed cells 
Treat patient with busulfan (kill HSC) 
Reinfused transformed cells into patient

Question 9

What are antisense oligonucleotides?

Answer 9

Small sections of nuclei acids which are complementary to target mRNA and can cause the degradation of mRNA which normally transcribes the mutant gene

Question 10

What is RNAi (siRNA)?

Answer 10

Act as agents for Dicer pathway, target the complementary RNA marking them for cleavage

Question 11

What is exon skipping?

Answer 11

Using oligonucleotides to skip the exon which contains the mutation so that a functional protein can be formed -

Only used in a specific circumstances and only used on large proteins where even if some of the exons are not expressed it still can be functional