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PoM > Genetics - Emerging treatments > Flashcards

Genetics - Emerging treatments Flashcards

1
Q

What are the largest group of genetics diseases in people?

A

Inborn errors in metabolism

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2
Q

What are inborn errors in metabolism?

A

Affect metabolic pathways of carbs, fatty acids and proteins through the deficiency of an enzyme

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3
Q

What are examples of inborn errors in metabolism?

A

PKU
MCADD
Maple syrup urine disease
Homocystinuria

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4
Q

What can a lack of an enzyme lead to?

A

Lack of product
Build up of substrate
Substrates being forced down alternative pathways

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5
Q

What is phenylketonuria?

A

Phenylalanine is normally converted to tyrosine under phenylalanine hydroxylase however this is lacking in PKU so phenylalanine forms phenylketones

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6
Q

What can PKU lead to?

A

Major cognitive impairment
Behavioural difficulties
Recurrent vomiting
Fairer skin, hair and eyes due to lack of melanin

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7
Q

How do we treat PKU?

A

Low protein diet

Tyrosine supplement

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8
Q

What do we need to do before developing treatment?

A

Identify the cause of a disease

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9
Q

What is haemophilia?

A

Blood clotting disorder that causes uncontrolled bleeding

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10
Q

Where does haemophilia cause bleeding

A

Into the joints
Into the brain
Internal bleeding

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11
Q

What happens if haemophilia is left untreated?

A

Can be fatal

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12
Q

When did haemophilia treatment begin?

A

1930s

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13
Q

What did we first use for haemophilia treatment?

A

Snake venom as it contained clotting factors in toxin repertoire

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14
Q

Why were whole blood transfusions not preferred for haemophilia?

A

Painful and inefficient

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15
Q

What do we use for modern day haemophilia treatment?

A

cryoprecipitate
freeze dried plasma derived factor concentrates
Factor VIII gene cloning

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16
Q

How did 2500 people die as a result of haemophilia blood transfusions in the 70s/80s?

A

HIV and hepatitis spread was facilitated due to lack of screening

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17
Q

How do we treat growth hormone deficiency?

A

Recombinant growth hormone

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18
Q

How do we treat Fabry disease?

A

Migalastat chaperone protein

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19
Q

How do we treat Pompe disease?

A

Injection of alpha glucosidase

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20
Q

What do pharmacological therapies do?

A

Treat but not cure diseases

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21
Q

What do pharmacological therapies treat?

A

Underlying conditions not the symptoms

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22
Q

What are pharmacological chaperones?

A

Allows proteins to fold correctly before being degraded due to a disease causing inefficient folding of the protein and hence degradation

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23
Q

What is the pathophysiology of Fabry disease?

A

Deficiency of alpha galactosidase A which leads to a build up of globotriaosylceramide (Gb3)

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24
Q

What are pharmacological moderators?

A

Commonly used drugs.

25
Q

What are modulators in the form of?

A

Receptor agonists or antagonists

Ion channel activators or blockers

26
Q

How are modulators useful in treating CF?

A

In CF, a chloride channel is defective and doesn’t open therefore we use ivacaftor which opens up the receptor, and sometimes use orkambi which also contains lumacaftor (chaperone) to prevent inefficient folding of protein.

27
Q

What is a non sense mutation?

A

Stop codon is introduced prematurely leading to a prevention in protein production as the chains produced are far too short.

28
Q

How do we use drugs to treat no sense mutations?

A

Some drugs can read through these stop codons

29
Q

What is an example of a stop codon read through drug?

A

Aminoglycoside antibodies bind to ribosome and cause mistranslation via the read through of stop codons therefore we base drugs on this.

30
Q

How do drugs read through the stop codon?

A

When they come across the stop codon the drugs allow tRNA to compete at the ribosomal site, eventually giving a full length protein.

31
Q

How is ataluren (stop codon read through drug) used to treat DMD?

A

DMD is caused by premature stop to give dystrophin that is truncated. Ataluren reads through stop codon to turn DMD into a milder form such as BMD.

32
Q

What is gene therapy for a recessive disease?

A

Replace the gene

33
Q

What is gene therapy for a dominant disease?

A

Delete the gene

34
Q

What makes gene therapy easier?

A

In vitro (ex vivo) than in vivo

35
Q

What are the two methods of treating mitochondrial inherited diseases in ex vivo?

A

Maternal Spindle transfer

Pronuclear transfer

36
Q

What does ex vivo mitochondria therapy require?

A

IVF

37
Q

Why is ex vivo mitochondria therapy controversial?

A

three parent baby argument

38
Q

What occurs in maternal spindle transfer?

A

Chromosomes are removed from cell with mutated mitochondria and added to donor enucleated egg to from pronucleus

39
Q

What occurs in pronuclear transfer?

A

Mutated (diseased) mitochondria cell is fertilised and then after fertilisation the pronucleus is removed and transferred to the donor egg.

40
Q

What is the idea of virus gene therapy (in vivo)?

A

Can engineer virus to carry therapeutic gene.

41
Q

What viruses are used for in vivo virus gene therapy?

A 
AAV (Adeno-associated virus)
Adenovirus 
Lentivirus - HIV 
Vaccina 
Virus choice depends on target tissue
42
Q

What is SCID?

A

Sever Combined Immuno Deficiency - patents lacks both t and B cell mediated response thus no adaptive immune system

43
Q

What are the different forms of SCID?

A

X linked

ADA-SCID (Adenine Deaminase Deficiency)

44
Q

How can SCID be treated?

A

Bone marrow transplant

45
Q

What is the downside of bone marrow SCID treatment?

A

80% of ADA-SCID patients are not compatible with bone marrow transplant. + transplant itself has its own risks

46
Q

How do we use strimvelis to treat ADA-SCID?

A

Strimvelis acts as an autologus transplant

47
Q

How does the process of strimvelis treatment for ADA-SCID?

A
  1. We extract HSCs, isolate and expand CD34+ cells
  2. Cells then transfected with lentivirus which carries the ADA.
  3. HSCs in patient are killed with busulfan
  4. Patient reinfused with ADA producing cells.
48
Q

Where we lack a copy of a functional gene, what can be used instead?

A

Virus

49
Q

Why do we prefer a spinal injection as opposed to a systemic injection?

A

Spinal has been most successful

50
Q

What is Leber Congenital amaurosis type 2?

A

Recessive disease which causes progressive blindness due to gradual loss of retinal cells

51
Q

How do we treat Leber Congenital amaurosis type 2?

A

Luxturna - vector injected into eye and starts producing RPE65 protein to improve vision

52
Q

What are antisense oligonucleotides?

A

Short modified nucleic acids complementary to target (the mRNA of the gene that we target with the drug)

53
Q

With what diseases are antisense oligonucleotides useful?

A

When there’s a gain of function

54
Q

When are antisense oligonucleotides also useful?

A

Exon skipping - bind to the acceptance side of exons which means that they will be skipped from the protein translation

55
Q

What is CRISPR-Cas9 based on?

A

Bacterial system which disables bacteriophages

56
Q

What is Cas9?

A

Crispr associated protein 9 which is an endonuclease therefore can cut DNA sequences

57
Q

What are the problems with CRISPR-CAS9?

A

Targeting of specific areas

Getting the system into every cell

58
Q

Why should we only use exon skipping for large protein?

A

There’s more of a chance that we will skip a larger proportion of the protein therefore create a complete loss of functionality.

PoM (27 decks)

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