Emerging Treatments Flashcards
How are inborn errors of metabolism normally inherited?
Recessive
What is the cause of PKU?
Lack of Phenylalanine hydroxylase
What is a treatment for PKU?
Low protein diet and Tyrosine supplement
What was used as a treatment for haemophilia in the 1970s?
Concentrated FVII
What was the blood scandal?
Contaminated blood products were given to people causing contraction of viruses
What do basic genetic disease treatments entail?
- Injection with products not present in the body.
- Blockers of toxic products in the body.
- Changes in diet
What are pharmacological chaperon drugs?
Drugs that which refold misshaped mutant proteins. They must must be taken regularly.
How can pharmacological modulators be used to treat genetic diseases?
Receptor agonists/antagonist, Ion channel activators/blockers can be designed to only affect the mutant receptor or channel
What are stop codon read through therapies based on?
Aminoglycosides binding to ribosomes, causing mistranslation
How do ‘stop codon read through’ drugs work?
Stopping premature stop codons (nonsense translations)
Do pharmaceutical treatments sure genetic diseases?
No
How does gene therapy work for a recessive disease?
Replace Defective Gene
How does gene therapy work for a dominant disease?
Delete Defective Gene
What is the treatment for mitochondria inherited diseases?
Requiring IVF, removing the spindle complex from an unfertilised egg cell, and inserting into a donor egg cell, then fertilising.
How does Virus gene therapy work?
Engineered virus carrying therapeutic gene binds to target tissue
