Week 6- Treatment of Genetic Diseases Flashcards
Are more treatments for genetic disorders genetic?
No- most modify environmental factors to improve the condition
To treat a genetic disorder you must know what?
What caused the disease Must know the locus and class of allele
What type of therapy uses an alternative metabolic pathway to reduce the concentration of the harmful metabolite?
Diversion
What condition uses inhibition therapy to inhibit hepatic cholesterol synthesis while diverting cholesterol?
Familial hypercholesterolemia
In hemochromatosis patients, what type of therapy is used to eliminiate iron?
Depletion therapy by drawing blood
What are four ways that genetic disorders can be treated at the molecular level?
- treatment at the level of the protein
- Modulation of gene expression
- Modification of somatic genome by transplantation
- Gene Therapy
For treatment at the level of the protein to work, the protein needs to have been….?
Synthesized.
This therapy fixes structural abnormalities
What are three ways treatment at the level of the protein works to enhance mutant protein function through small molecule therapy?
- Extra cofactors to help impaired enzymes
- Help mutant proteins fold properly
- Allows translation to overcome mutations that created early stop codon
When is protein augmentation used in treatment at the level of the protein?
When the effected protein’s main site of action is plasma or extracellular fluid
What is an example of protein augmentation?
Infusion of factor VIII enriched plasma to help hemophiliacs
When is enzyme replacement-extracellular augmentation used in treatment at the level of the protein?
Provide extracellular alternative to mutant intracellular enzyme (i.e. extracellular increase of an enzyme that is normally intracellular)
What type of disorders is enzyme replacement-intracellular augmentation used for?
2 lysosomal storage disorders
What is the limitation in intracellular augmentation?
Insufficient amounts of infused enzyme can cross the blood brain barrier to treat brain forms of the disease
Very expensive
What conditioned is managed using an increase in gene expression?
Hereditary angioedema (use steroid hormones to raise level of protein function to normal)
What reduces the expression of a dominant mutant gene product w/o altering normal allele production?
RNA interference
