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POM GENETICS > Emerging Treatments > Flashcards

Emerging Treatments Flashcards

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Biology 101 flashcards
1
Q

What is the largest group of genetic diseases?

A

Inborn errors of metabolism

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2
Q

What causes inborn errors of metabolism?

A

Defects of single genes that code for enzymes that facilitate conversion of substrates into products

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3
Q

What is the main problems with the inborn errors of metabolism?

A

There is an accumulation of substances that are not converted into products that may be toxic or interfere with normal function

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4
Q

What are four examples of diseases caused by inborn errors of metabolism?

A

Maple syrup urine disease
MCAD Deficiency
Phenylketonuria (PKU)
Homocystinuria

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5
Q

What pathways do inborn errors of metabolism effect?

A

carbohydrates
fatty acids
proteins

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6
Q

What happens in phenylketonuria?

A

There is no phenylalanine hydroxylase meaning phenylalanine is no longer converted into tyrosine and is converted into phenylketones instead

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7
Q

What can untreated PKU lead to?

A

Major cognitive impairement
Behavioural difficulties
Lack of melanin so fairer skin and hair
Recurrent vomiting

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8
Q

What is used to treat PKU?

A

Tyrosine supplements in diet

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9
Q

Why are patients with PKU advised to keep a low protein diet?

A

Phenylalanine is an amino acid found in protein, so given PKU patients are advised to have a low protein diet to avoid unnecessary buildup as they struggle to degrade it

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10
Q

What are some symptoms of Haemophillia?

A

Uncontrolled bleeding
Bleeding into joints and brain
Internal bleeding

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11
Q

How is haemophillia treated?

A

By replacing the missing clotting factors isolated from human blood serum, 8 and/or 9

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12
Q

What is important to know before trying to treat through diet and replacement?

A

The biochemistry behind the condition as the treatment is not mutation specific

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13
Q

What are three other conditions which can be treated by replacement?

A

Growth hormone deficiency
Fabry disease
Pompe disease

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14
Q

What are the four general stages of drug development?

A
  1. Discovery/preclinical
  2. Lab based testing
  3. Clinical testing - in 3 phases
  4. Approval by the regulatory bodies
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15
Q

What happens in phase 1 of clinical testing?

A

Tested on healthy volunteers, with a sample size of <100

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16
Q

What happens in phase 2 of clinical testing?

A

The drug is tested to check the therapeutic effect on patients with the condition, 100-300 people

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17
Q

What happens in phase 3 of clinical testing?

A

Large scale therapeutic trials with 2000-3000 patients

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18
Q

Who tests and approves drugs in England?

A

The National Institute for Health and Care Excellence

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19
Q

What is the purpose of protein-targeting therapies?

A

They try to normalise the function of mutant proteins

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20
Q

What is a pharmacological chaperone?

A

A drug which serves as molecular scaffolding in order to stabilize mutant proteins and cause them to fold correctly

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21
Q

What condition is migalastat used to treat?

A

Fabry disease

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22
Q

What are pharmacological modulators?

A

They are receptor agonists / antagonists which can act as ion channel activators and blockers

23
Q

What condition is Ivacaftor used to treat?

A

Cystic fibrosis

24
Q

What is combination therapy?

A

When a protein chaperone and modulator is used as the problem could be fixed with both

25
Q

What is an example of a case where combination therapy would be useful?

A

When you have a defective chloride ion channel in CF resulting from one mutations that lead to misfolding

26
Q

What is a non-sense mutation?

A

When a stop codon is inserted into the middle of the gene, preventing the complete read-through of the instructions for a complete protein to form

27
Q

How does stop codon read through therapy work?

A

When the therapy can recognise a mutated stop signal which differs from the normal one, and encourages the cell to ignore the stop codon

28
Q

What condition is Ataluren used to treat and what kinda of treatment is it?

A

Stop codon read through therapy for Duchenne Muscular Dystrophy

29
Q

What are the four methods of small molecule treatment?

A
  1. Stop codon read through therapy
  2. Pharmacological Modulators
  3. Pharmacological Chaperones
  4. Combination therapy
30
Q

What does in vitro mean?

A

In Glass

31
Q

What is meant by gene therapy?

A

The therapeutic delivery of nucleic acid into a patients cells as a drug to treat disease

32
Q

What does in vivo and ex vivo mean?

A

In the living and out the living

33
Q

What are three reasons that gene therapy is very difficult to achieve in practise?

A

Achieving specificity
Getting therapy to right place
Maintaining expression once it is in the right place

34
Q

What is done in gene therapy when you have a recessive disease?

A

You replace the defective gene

35
Q

What is done in gene therapy when you have a dominant disease?

A

Delete defective gene

36
Q

What is meant by spindle transfer?

A

Where the nuclear DNA is transferred to another healthy egg cell leaving the defective mitochondrial DNA behind

37
Q

Is mitochondrially inherited disease therapy in vivo or in vitro?

A

In vitro

38
Q

What does virus gene therapy involve?

A

The use of an engineered virus to carry therapeutic genes

39
Q

Give examples of viruses that can be used in virus gene therapy

A

AAV
Adenovirus
Lentivirus - HIV
Vaccinia Virus

40
Q

Why can virus gene therapy be useful for patient with SCID?

A

SCID can sometimes be treated using a bone marrow transplant, however it is not possible for all children as 50% of patients with SCID cannot find a donor match

41
Q

How does in vivo supplement therapy work?

A

When patients lack a functional copy of the gene, they can use a virus to carry a working copy into the cells

42
Q

What are anti-sense oligonucleotides?

A

Small sections of mRNA which bind to target mRNA and cause it to be degraded - blocks translation and can also alter splicing

43
Q

What type of diseases is in vivo knockdown therapy useful for?

A

In diseases caused by a gain of function

44
Q

What is exon skipping therapy?

A

Involves the use of oligonucleotides to skip the disease causing exon, with the useful RNA being put back into the reading frame so active protein is still made

45
Q

What can happen in exon skipping therapy when given to patients with duchenne muscular dystropy?

A

Removal of the mutant exon can cause DMD to become BMD

46
Q

What are some future possible gene therapies?

A

CRISPR-Cas 9

47
Q

What are the disadvantages of using CRISPR-Cas9?

A

Cannot target large changes like large deletions of triplet expansions

48
Q

One form of SCID (severe combined immunodeficiency) is caused by a lack of Adenine deaminase (ADA) in haematopoietic stem cells. This condition is often treated by bone marrow transplant. In some patients this is not possible what genetic approach could be used to treat this condition?

A

Ex vivo (In vitro) gene therapy

49
Q

Phenylketonuria (PKU) is an autosomal recessive disease caused by lack of phenylalanine hydroxylase (PAH). Some of the mutations in PAH prevent it from folding properly. Other mutations reduce the activity of the enzyme. Which approaches might be successful in treating the disease caused by these two types of mutation.

A

a. Pharmacological chaperones
In this form the disease is caused by a misfolded but otherwise functional enzyme.
b. Activator
In this form the disease is caused by a less active enzyme so an agent which boosts its function would help.

50
Q

Familial Mediterranean fever is an autosomal dominant disease caused by a point mutation in FMF gene. Which approaches might be successful in treating this disease?

A

knockdown (antisense) approach
This disease is a dominant disease caused by a protein with a gain of function so the activity of this protein needs to be blocked. Theoretically gene editing could also be used to correct this as it is a point mutation but this is not currently possible.

51
Q

McArdle Disease is an autosomal recessive condition caused by mutations in glycogen phosphorylase, muscle associated (PYGM). PYGM is small enzyme . One of the most common mutations is a nonsense mutation (a premature stop codon) caused by the change of a single nucleotide. What approaches might be useful for treating this disease ?

A

Stop codon read through
This disease is caused by a premature stop codon, so allowing the translation machinery to read through this would alleviate the symptoms. Exon skipping would not work for this as it is point mutation not a deletion. In addition PYGM is a small protein so deleting a section of this would likely result in a non-functional form. Theoretically gene editing could also be used to correct this as it is a point mutation but this is not currently possible.

52
Q

Marsili Syndrome is an autosomal dominant disease caused by a mis-sense mutation, in this disease the mutation is the (a point mutation) in the ZFHX2 gene. What approach might be successful in treating this disease ?

A

knockdown (antisense) approach
This disease is a dominant disease caused by a protein with a gain of function so the activity of this protein needs to be blocked. Theoretically gene editing could also be used to correct this as it is a point mutation but this is not currently possible.

53
Q

Beta thallasemias are a group of diseases caused by mutations in beta-globin which results in reduced production of haemoglobin A. These are treatable by bone marrow transplant but for many individuals a suitable matching donor cannot be found. What therapeutic approach would be suitable to treat these patients

A

Ex vivo gene therapy. Because this is a disease caused by a mutation affecting hematopoietic cells. It could be treated by removing hematopoietic stem cells treating them to insert a functional version of beta-globin. Indeed such a therapy exists called Betibeglogene autotemcel

POM GENETICS (9 decks)

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