Treatment for Genetic Diseases(5) Flashcards
What are three disease specific methods of treatment of metabolic disorders?
1- Dietary modification/ restriction
2- Inhibition
3- Depletion
Give an example of using depletion to treat a metabolic disorder?
Hereditary hemochromatosis (accumulation of Fe in the blood) can be controlled by regular phlebotomy
What is the theory behind extracellular protein replacement?
If a protein is missing, add it back in
What are two examples of extracellular protein replacement?
Hemophelia A
alpha1- antitrypsin deficiency
Problems with extracellular protein replacement?
Cost, availability, antibody production in patient, contamination
What is an example of intracellular protein replacement therapy?
Gaucher disease
Give an example of enhancing genetic expression to treat a genetic disease:
Sickle cell anemia treatment with Decitabine (which leads to hypomethylation of DNA and increased levels of HbF)
What happens in a bone marrow transplant (as a method for treating hematologic disorders)?
Collect the marrow/ stem cells from the patient or from a matched donor.
Transplantated cell will reestablish in the new host and will hopefully be disease free
Aside from hematologic disorders, what other genetic diseases can bone marrow transplantation help with?
Hysosomal storage diseases
What are the two types of stem cells?
embryonic (pluripotent)
somatic (limited to tissue of origin)
Embryonic stem cells have a potential therapeutic use for?
Parkinsons disease
Alzheimers disease
Embryonic stem cells are potential sources of cells for?
Tissue grafting
Organ transplants
What are the problems with allogenic stem cell use?
Immunosuppression
Graft vs Host disease
What are iPS stem cells?
Induced pluripotent stem cells that have been “reprogrammed”
Beneficial be cause there is less chance of immune rejection.
What is the process of cloning?
Cell obtained from donor
Unfertilized egg is obtained from another individual and enucleated
Nucleus from the donor cell is inserted into the enucleated oocyte.
Implanted into a surrogate mother.
What are some ill effects of cloning?
Possible negative impacts on genes and chromosomes
Normal cellular aging is still a problem.
Personality, disposition, size are variable.
Definition of gene therapy?
Deliberate introduction of genetic material into human somatic cells for a therapeutic, prophylactic or diagnostic purpose
What are the three general classes of gene therapy?
- Correct a loss of function mutation by incorporation of a functional gene
- Compensate for a deletorious allele by replacement or inactivating the mutant allele
- Adding genetic material that has pharacological effects
What are the requirements for success of gene therapy?
1- Identification of gene
2- Availability of gene sequence or cloned DNA from the gene of interest
- ID of target tissue
- Ability to deliver to target tissue
- Understanding of gene biochemistry
- Understanding of expression
Major limitation of gene therapy?
Delivery of gene to target….the vector must be able to carry DNA and insert the DNA into the target cell.
What is in vivo gene therapy?
Genes are incorporated into vectors and targeted to specific cells in the body?
What is ex vivo gene therapy?
Cells are extracted from the patient and genetically modified The altered cells are then returned to the patient.
What was the first case of successful gene therapy?
ADA deficiency which results in SCID.
What is antisense DNA therapy?
Decreased protein production because translation is blocked.
Usefull in therapy.
