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Human Genetics - 2016 > Lecture 22 - Treatment of Genetic Diseases > Flashcards

Lecture 22 - Treatment of Genetic Diseases Flashcards

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1
Q

Which of the following treatment strategies for metabolic abnormalities is NOT used to treat familial hypercholesteremia?
A. Substrate reduction in which cholesterol is eliminated from diet
B. Diversion therapy in which excess cholesterol is converted to bile
C. Pharmacological inhibition with statin drugs to lower LDL
D. Depletion therapy with apheresis to deplete LDL from plasma

A

A. Dietary restriction is not a feasible option with the severity of this disorder.

(Note: I made this question up myself, maybe I’m wrong, be warned)

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2
Q

Single gene defects usually involve what mode of inheritance?

A

Autosomal recessive

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3
Q

Therapeutic interventions for mutant genes involve what two techniques?

A
  1. Modifying the genotype

2. Pharmacologic modulation of expression

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4
Q

Therapeutic interventions for mutant mRNA involve what specific technique?

A

RNA interference

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5
Q

Therapeutic interventions for mutant proteins involve what two techniques?

A
  1. Protein replacement

2. Enhancement of residual function

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6
Q

Therapeutic interventions for metabolic dysfunction involve what specific technique?

A

Compensation (often via diet)

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7
Q

Therapeutic intervention for a clinical phenotype involves what two techniques?

A
  1. Medical intervention

2. Surgical intervention

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8
Q

A person with beta-thalassemia experiences modification of the genotype as a therapeutic intervention (via bone marrow transplant). Their disease falls into what category level of intervention?

A

Mutant gene

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9
Q

A person with Hemophilia-A experiences protein replacement with Factor VIII as a therapeutic intervention. Their disease falls into what category level of intervention?

A

Mutant protein

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10
Q

A person with HIV-1 experiences RNA interference as a therapeutic intervention (via antisense TAT/TAR). Their disease falls into what category level of intervention?

A

Mutant mRNA

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11
Q

Newborns with cleft lip/palate fall into the treatment category of ‘structural abnormalities’, 50% of which can be cured by _________.

A

a single operation

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12
Q

Phenylalanine restricted diets in PKU is an example of what treatment strategy for metabolic abnormalities?

A

Substrate limitation

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13
Q

Many disorders in the category of metabolic abnormality involve __________ pathways and require life-long compliance of specific dietary protein levels.

A

amino acid catabolic pathways

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14
Q

Many single gene disorders of metabolic abnormality are effectively treated with _____________, in which the missing essential metabolite, hormone, or cofactor is provided.

A

product replacement

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15
Q

Which of the following is not a correct pair of product replacement treatment for the associated disorder of metabolic abnormality?
A. Thyroxine supplementation: Congenital Hypothyroidism
B. Maternal biotin administration: Biotinidase Deficiency
C. Galactose supplements in Galactosemia (GALT)
D. Factor VII in Hemophilia A
E. Factor IX in Hemophilia B

A

C. Galactosemia involves AVOIDING galactose (i.e. substrate limitation)

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16
Q

__________ diverts metabolites into an alternative pathway to reduce toxic levels.

A

Diversion therapy

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17
Q

Diversion therapy can be used in diseases of what class of inheritance?

A

Autosomal dominance

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18
Q

Sodium benzoate treatment in OTC deficiency for hyperammonemia is an example of which treatment strategy?

A

Diversion therapy

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19
Q

Cholestyramine is a non-absorbable resin that diverts increased cholesterol levels into bile synthesis. What general type of treatment strategy is this, and what does it do to LDL-R levels?

A

Diversion therapy - increased LDL-R levels by the liver

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20
Q

When is pharmacological inhibition needed?

A

When tissues/organs alter expression of toxic metabolites in response to other therapies.

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21
Q

Some Statin drugs are HMG CoA reductase inhibitors that block intestinal absorption of cholesterol. What does this do to LDL levels by the liver?

A

40-60% decrease in LDL levels by the liver

22
Q

Phlebotomy for Hemochromatosis is an example of what type of treatment strategy?

A

Depletion therapy - phlebotomy depletes accumulation of plasma iron levels in hemochromatosis

23
Q

How is depletion therapy used in treatment of Familial Hypercholesterolemia?

A

apheresis: depletes LDL from plasma

24
Q

What are the two major functions of small molecule therapy to enhance mutant protein function?

A
  1. improve protein folding to enhance function

2. increase protein stability

25
Q

Vitamin B6 for Homocystinuria is an example of what type of treatment strategy?

A

Small molecule therapy

26
Q

Which is NOT an example of small molecule therapy to enhance mutant protein function?

A. Pyridoxone for homocystinuria
B. Curcumin for CFTR-delta508
C. Gentamicin for CFTR mutant codon skipping
D. Factor VIII in hemophilia A

A

D. This is an example of “protein augmentation”.

27
Q

IV delivery of alpha1-AT to the lung epithelium and alveolar interstitial fluid in alpha1-Antitrypsin Deficiency is an example of what treatment strategy?

A

Protein augmentation

28
Q

What are 3 treatment strategies for diseases with altered protein levels?

A
  1. Small molecule therapy
  2. Protein augmentation
  3. Enzyme replacement therapy
29
Q

What are 5 treatment strategies for diseases of metabolic abnormality?

A
  1. Substrate limitation
  2. Product replacement
  3. Diversion therapy
  4. Pharmacological inhibition
  5. Depletion therapy
30
Q

For autosomal dominant diseases, gene expression is modulated by increasing transcription from ________ gene loci.

A

Wild-type

31
Q

The cytosine analog Decitabine inhibits methylation of the gamma-globin promoter. This is a form of gene expression modulation that leads to _________.

A

increased Hb-F synthesis in Sickle Cell Disease (SCD)

*Note: gamma-globin promoter is NOT affected by SCD

32
Q

What treatment is used to inhibit methylation of the gamma-globin promoter, leading to increased Hb-F synthesis in patients beta-Thalassemia?

A

Decitabine or Hydroxy-Urea (modulation of gene expression from a locus not affected by disease)

33
Q

_______ diseases are perfect targets for RNAi therapy, which decreases gene expression from an autosomal dominant mutant locus.

A

Triple repeat diseases

34
Q

What are 3 shared issues of Bone Marrow Transplant and Organ transplant?

A
  1. GVHD (graft versus host disease)
  2. Immune suppression
  3. Infection
35
Q

What are advantages of ex vivo gene therapy?

A
  1. Direct delivery to target cells

2. Multiple repeated application possible

36
Q

What are disadvantages of ex vivo gene therapy?

A
  1. Must transduce many cells
  2. Toxicity
  3. Immune response
  4. Stability
37
Q

What are advantages of in vivo gene therapy?

A
  1. Cells can be grown to a homogenous population, transduced and enriched in selective media
  2. Can test expression prior to transplantation
  3. Eliminate potential immune complications
38
Q

What are disadvantages of in vivo gene therapy?

A
  1. limited to cell transplantation applications

2. expensive, cumbersome since treatment tailored towards each individual patient.

39
Q

What are the 7 major viral vectors given?

A
  1. Retrovirus
  2. Lentivirus
  3. Adenovirus
  4. Adeno-associated virus
  5. Herpes simplex virus
  6. Vaccine virus
  7. Measles virus
40
Q

Which is NOT a disadvantage of retrovirus?

A. Only integrates into dividing cells
B. Small genome size: can incorporate 1-2 genes, 7 kb
C. Relatively low titers
D. Safety, use of HIV sequences
E. Risk of insertional mutation of a tumor suppressor gene or activation of a proto-oncogene at transcription start

A

D. This is a disadvantage of Lentivirus (also termed seroconversion)

41
Q

Which type of viral vector is an ssRNA virus that replicates via a dsDNA intermediate that stably integrates into the host genome?

A

Retrovirus

42
Q

Which type of viral vector is based on HIV-1 (ssRNA)?

A

Lentivirus

43
Q

Which type of viral vector does NOT have “small genome size” listed as a disadvantage?

A. Retrovirus
B. Lentivirus
C. Adenovirus
D. More than one of the above have small genome size as a disadvantage
E. All of the above have small genome size as a disadvantage

A

C. Adenoviruses are large, making their size an advantage.

44
Q

Which viral vector is based on human parvovirus?

A

Adeno-associated virus

45
Q

Which viral vector is based on the human cold virus?

A

Adenoviruses

46
Q

Which of the following viruses integrates into the host genome in a site-specific manner?

A. Adeno-associated virus
B. Herpes Simplex Virus
C. Adenovirus
D. Retrovirus

A

A. Adeno-associated viruses associate into the host genome in a site-specific manner.

*Note: HSV and AdV are episomial (do not integrate into host genome), while RV integrates in a non-specific manner.

47
Q

Which viral vector is used for in vivo approaches of CNS/PNS?

A

Herpes Simplex Virus

48
Q

________ viruses are the only DNA viruses to replicate in the cytoplasm.

A

Vaccinia (Pox) viruses

49
Q

_______ viruses are one of few RNA viruses to replicate in the nucleus.

A

Measles viruses

50
Q

Adeno-associated viruses are NOT used to target which of the following monogenic diseases?

A. Muscular Dystrophy
B. Hemophilia A and B
C. X-SCID
D. SCID ADA

A

C. X-SCID has been a target of genetic therapy with retroviruses and lentiviruses.

51
Q

Diabetes complications, Alzheimer’s, and Parkinson’s have all been targeted with ______ vector delivery.

A

HSV

Human Genetics - 2016 (32 decks)

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