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POM Week 3 > Treatments for genetic disorders > Flashcards

Treatments for genetic disorders Flashcards

1
Q

What is the largest group of genetic disease?

A

Inborn errors of metabolism

Affect variety of pathways

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2
Q

Give examples of diseases caused by inborn errors of metabolism?

A

Phenylketouria (PKU)

MDCAD deficiency

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3
Q

Why do errors of metabolism cause disease?

A

Lack of product e.g. enzyme

Increased levels of substrate

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4
Q

What does PKU result in?

A

Major cognitive impairments
Behavioural difficulties
Fairer skin, hair and eyes

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5
Q

How do you treat PKU?

A

Low protein diet

Tyrosine supplement

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6
Q

What does haemophilia result in?

A

Bleeding into joint, brain and internally
Excruciating pain
Fatal if untreated

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7
Q

How has haemophilia been treated?

A

Dilute snake venom
Whole blood transfusions
Plasma transfusions
Freeze-dried plasma-derived factor concentrates

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8
Q

How is haemophilia treated now?

A

Recombinant factor VIII treatment

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9
Q

Summarise part I

A 
Treatment by diet
Treatment by replacement
Need to know biochemistry 
No need to know gene involved 
Not mutation specific
Treatments follow the science
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10
Q

What are the stages of drug development?

A 
Discovery
Testing in animals
Clinical trials (I,II,III)
Approval (EMA, FDA)
Approval for NHS use (cost-effective)
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11
Q

What’s the deal with therapies targeting proteins?

A

Treatments not cures

Try to normalise function of mutant protein

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12
Q

What are pharmacological chaperones?

A

Cause misfiled proteins to fold correctly

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13
Q

What disease can be treated by pharmacological chaperones?

A

Fabry disease

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14
Q

How is Fabry Disease treated?

A

Mitgalastat: small molecule chaperone
Stabilises enzyme in correct shape
Expensive

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15
Q

What are pharmacological modulators?

A

Receptor agonists/ antagonists

Ion channel activators/ blockers

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16
Q

What disease can be treated by pharmacological modulator?

A

Cystic Fibrosis

17
Q

How is Cystic Fibrosis treated?

A

Combination therapy: chaperone and activator
Defective chloride channel
Design drug that causes activation
Mutation specific

18
Q

What is stop codon read through?

A

Some diseases caused by premature stop codon

Prevent protein production

19
Q

Can drugs prevent stop codon read through?

A

Aminoglycoside antibiotics bind to ribosome
Cause mistranslation
Drugs read through non-sense mutations

20
Q

What drugs are used to treat stop codon read through?

A

Ataluren used to treat Duchenne muscular dystrophy

21
Q

How can small molecules treat genetic disease?

A

Correct mis-folding of proteins
Increase activity
Ignore premature stop codons

22
Q

What is gene therapy?

A

Replace defective gene

Delete defective free

23
Q

Why is gene therapy difficult to achieve?

A

Achieving specificity
Getting therapy to right place
Maintain expression

24
Q

What’s the deal with mitochondrially inherited disease therapy?

A

Only effective therapy requires IVF
Take DNA from fertilised patient egg
Transfer to donor egg normal mitochondria

Approved for use in UK
Controversial
3 parent babies

25
Q

What’s the deal with virus gene therapy?

A

Can engineer virus to carry therapeutic gene

Virus choice depends on target tissue

26
Q

How does in vitro gene therapy CAR-T cell work?

A 
Chimeric antigen receptor T-cell
used to treat cancer
T-cell receptor antigen bound to MHC 
Low affinity
CAR- recognise antigen directly 
Variable region monoclonal antibody scFv
Recognises cancer cell 
T-cell receptor and co-receptor signalling domain
27
Q

How does in vitro gene therapy CAR-T cell work?

A 
Take donor blood
Isolate T-cells and expand 
Transfected with CAR
CAR-T cell expanded 
Reinfused to patient
28
Q

Why is in vitro gene therapy CAR-T cell not often used?

A

Can cause cytokine release syndrome and neurological damage

29
Q

What are the different methods of in vivo gene therapy?

A

Use a virus to carry working copy
Can inject systemically
Can inject locally

30
Q

Give an example of a disease treated by in vivo gene therapy?

A

Leber kongenital amaurosis type 2

Injected directly to back of eye

31
Q

What are anti-sense oligonucleotides?

A 
Short modified nucleic acid complementary to target 
Modification prevents degradation 
Allows entry to cell
Binds to target
Block translation
Can also alter splicing
Relatively cheap
32
Q

What else can anti-sense oligonucleotides be used for?

A 
Exon skipping 
During pre-RNA processing
Cause exon to be skipped 
Useful in limited circumstances 
Exons skipped mustn't be vital
Generally only large proteins
Used in DMD- not approved in Europe
33
Q

What is CRISPR-Cas 9?

A

Possible future gene editing therapy

POM Week 3 (11 decks)

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