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PoM - Principles of Medicine Week 3 > Treatments > Flashcards

Treatments Flashcards

1
Q

What do the largest group of genetic diseases affect?

A

Metabolism pathways

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2
Q

Consequence?

A

Increased conc of substrate
Alternate pathway producing different, possibly toxic product
Not enough actual product that the pathway is supposed to produce

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3
Q

How does PKU work?

A

Phynylalanine converted to phenylketones
Lack of phynylalanine hydroxylase (discovered in 1953)
1960s screening program to measure pheny alanine treaments

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4
Q

How does PKU present as symptoms?

A

Can’t remember

fairer skin and hair

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5
Q

What is the standard PKU treatment?

A

Low protein diet

Tyrosine supplement

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6
Q

How are treatments derived?

A

After understanding the mechanism of the disease (so science first)
e.g. with PKU…

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7
Q

What is another broad range of disease?

A

Blood clotting diseases e.g. haemophilia

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8
Q

How does haemophilia present?

A

Bleeding into the brain etc

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9
Q

What us the standard treatment for Haemophilia?

A

1930s - snake venom (believed to contain clotting agents)
1940s - patients given large pints of blood
1952 - Factor VIII
1955 - infusions of Factor VIII in plasma form, many pints
1970s - purify Factor VIII protein HOWEVER this caused a huge transferof HIV and Hep B

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10
Q

Where did the haemophilia treatment go wrong?

A

something

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11
Q

How did the issue for haemophilia treatment get solved?

A

Heat treatment

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12
Q

What are some other diseases treated by replacement of the missing molecule?

A

Idk

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13
Q

What are the 2 main treatment options?

A

Diet

replacement

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14
Q

How were diseases treated previously?

A

The symptoms

not the underlying cause

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15
Q

How to form an effective treatment?

A

Understand underlying science / mechanism behind the disease first

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16
Q

What are the steps of drug development

A

Discovery / preclinical
Longest part lab based
testing in animals
clinical testing in 3 phases - first in healthy volunteers to see if there are toxic affects
next patients - therapeutic to look for correct doses plus side effects
large scale

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17
Q

What do trials look for?

A

Risk benefit

Are there more benefits than risks?

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18
Q

What are the NHS values for approval of the use of the drug?

A

NICE - value for money (not absolute cost)

Must follow all guidelines for treating conditions

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19
Q

What controls the folding process of a protein pharmacologically?

A

Chaperones - acts as stabiliser for mutant proteins to help the protein fold correctly
Sits in active site of the enzyme responsible for folding, then the actual protein folds around the chaperone into the correct shape

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20
Q

Why are some proteins misfolded?

A

Complex

ER degrades protein … etc

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21
Q

What is Fabry disease?

A

something

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22
Q

What are pharmacological modulators and what can they be used for?

A

Used in drugs commonly
Best to target specific mutations
receptor agonists / antagonists… etc

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23
Q

How can pharmacological modulators be used to treat CF?

A

Design a drug that works to open the mutant drugs

If you don’t have one of the 33 mutations, it will be unsuccessful?

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24
Q

Drawbacks of modulators?

A

Specific to mutation

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25
Q

How are the drawbacks of these types of treatments overcome?

A

Combination of treatments

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26
Q

Drawbacks of CF and solutions

A

Even if the channel is folded correctly, doesnt mean itll work? REWATCH
Use it with other treatments
NOT a cure?

27
Q

What is the issue with combination therapy ?

A

All will want but only works on some

NOT a cure, only a treatment

28
Q

What is a pre-mature stop codon?

A

non-sense mutation causes stop codon to be read early

smaller protein formed - degraded

29
Q

How can this be used?

A

Base durgs on this e.g. Ab that causes rivbosome to mis-translate

30
Q

What is DMD caused by?

A

Premature stop codon (only some cases) - can’t treat BMD

31
Q

Drug to help DMD? what is it based on?

A

Ataleuren looks similar to streptomycin

Not cures, treatments, but lessened the extent of the disease

32
Q

Drawbacks?

A

Need correct / exact non-sense mutation

won’t work otherwise

33
Q

How can small molecules be ised to treat genetic disease?

A

Correct folding

… etc

34
Q

What is gene therapy?

A

Stop action of defective gene
Replace defective gene
In practice more diffilcult than it sounds

35
Q

Why is it difficult to achieve in practice?

A

Specificity
In the correct place
Maintain expression

36
Q

Easier to achieve in vitro or in vivo?

A

Vitro

37
Q

Vitro Vs vivo

A

idk

38
Q

How can mitochondirally inherited dieases be treated?

A

Requires IVF, replace faulty mitochondria from mother and replace with healthy donor’s mitochondria
Use spindle fibre

39
Q

What is the controvery on mitochondrially inherited disease treatment?

A

Three parent babies

40
Q

What is the best vector for gene therapy?

A

Viruses

41
Q

Why are viruses good vectors and how are they chosen?

A

Where is the target? How will it get there? how long the treatment needs to last?

42
Q

What is CAR-T cell therapy

A

Used the treat certain forms of lymphoma
Take T-cell receptor and stick a fragment antigen on the MHC protein?
Low affinity??
Improves signalling from that receptor?

43
Q

How does the process work for treatment?

A 
Take patient blood
isolate t-cells 
infect with lentivirus
Suppress patient's own T cell
reinfused into patient 
T cell targets cancerous cells?
44
Q

Why is this the last resort for SOME types of cancer only?

A

Many awful sife effects
Expensive
Not effective against solid tumours, only against lymphomas

45
Q

What is in vivo gene therapy?

A

something

46
Q

What are some in vivo treatments used to treat?

A

idk

47
Q

Example of in vivo supplement?

A

eye thing

48
Q

What has been developed to treat this?

A

Virus carrying gene
Injected into back of the eye
Prevents some of the danage caused to the retina as the virus expresses the protein

49
Q

Issues?

A

Only recent approval

Often don’t recognise patients until the disease has progressed

50
Q

What can be used to prevent unwanted translation of proteins?

A

antisense oligonucleotides?

2 ways - can’t remember

51
Q

What are the 2 ways

A

Can’t remember

52
Q

Example of oligoantisense thingy?

A

Inject foetally - blocks translation of the mutant antigen proteins
decrease in the huntington’s protein
Now is phase 3 trial to see if it has benefits

53
Q

Other therapy?

A

Exon skipping?

Some mutations delete a part of the message - so the remain message is also deleted

54
Q

Useful in limited circumstances?

A

Only useful in large proteins

Used for DMD occassionally - try ot convert DMD to BMD phenotype instead

55
Q

What does it do?

A

Skip exon 51

Dystrophin just with a small bit missing

56
Q

Only got treatments

A

Haven’t got cures yet

57
Q

Possible future therapies?

A

Gene cell therapy in th UK - increasing no. of trials
currently 80-90 on going
Source of funding - initally government, now more commercial
May be in use in a few years?

58
Q

Issues

A

Early stages - looking at toxicity not effectiveness

need to recruit patients

59
Q

Gene editing? Most famous?

A

CRISPR Cas-9 = delete CCR5?
Exists in bacterial immune system
recognise DNA previously exposed to ad encorporate it into their own DNA
Use that to protect itself against viral infections

60
Q

Use this therapeutically how?

A

Small errors - point mutations

61
Q

Issues?

A

Can’t delete large errors e.g. expansions, deletions etc.
May have off target effects
Difficult to target and get into the target cell

62
Q

When has crispr-cas9 been used in humans?

A

Chinese doctors - partial knock out of CCR5 in twins

Controversial - illegal in most of the world

63
Q

Few years ago treatment for mitochondrial disease was controversial

A

Perhaps gene editing will be more accepted in the future

64
Q

What does the future hold for treatments?

A

Large number undergoing
Many ineffective / not approved
Cures more distant - Patient expectations are high - due to media info exposure e.g. using ‘miracle’, and stats
NOT a miracle / cure, ONLY a treatment

PoM - Principles of Medicine Week 3 (9 decks)

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