- Shuffle
Toggle OnToggle Off
- Alphabetize
Toggle OnToggle Off
- Front First
Toggle OnToggle Off
- Both Sides
Toggle OnToggle Off
Front
How to study your flashcards.
Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key
Up/Down arrow keys: Flip the card between the front and back.down keyup key
H key: Show hint (3rd side).h key
PLAY BUTTON
PLAY BUTTON
57 Cards in this Set
- Front
- Back
|
What is the objective of treatment of genetic disease?
|
to eliminate or ameliorate effects of teh disorder on the patient and their family
|
|
Why would genetic counseling be necessary?
|
To inform family to risk to other family members
|
|
Single-gene genetic treatment is completely effective in ___ of patients.
|
12%
|
|
What makes treatment of genetic disease more successful?
|
If the basic biochemical defect is known
|
|
With regards to long-term treatment assessment, it is imporatant to remember that the absence of short-term side effects doesn't mean___
|
absence of long-term side effects
|
|
Optimal treatment of genetic diseases require ___
|
a high degree of diagnostic precision (must know locus and class of allele)
|
|
Many problems may _____ but require different treatments.
|
create the same disorder
|
|
This level of treatment is often the only therapy available and may the only treatment needed.
|
Therapy directed at clinical phenotype (may be medical or surgical)
|
|
What are the 5 steps to approach treatment of metabolic abnormalities?
|
dietary restriction
replacement diversion inhibition depletion |
|
Dietary restriction is ____
|
highly effective but lifelong and difficult committment.
|
|
Most treatable genetic diseases involve ____ and are treated with ___
|
1. amino acid catabolic pathways
2. severe restriction of dietary protein |
|
What does the replacement stage of treatment of metabolic abnormaltiy involve
|
give the patient the item missing due to genetic disease.
|
|
this stage of treatment of metabolic abnormalities uses enhancement of alternative metabolic pathways to reduce concentration of a harmful metabolite.
|
diversion
|
|
What is inhibition with regards to treatment of metabolic abnormalities?
|
using pharmacological inhibition of enzymes to modify inborn metabolic errors.
|
|
The best treatment for familial hypercholesterolemia?
|
inhibit hepatic cholesterol synthesis while diverting cholesterol
|
|
The direct removal of accumulated harmful products from the body is ____
|
Depletion (tx metabolic abnormalities).
|
|
What is an example of depletion when treating metabolic abnormalities?
|
draw blood to eliminate iron in patients with hemochromatosis (or polycythemia)
|
|
What are the 4 basic true "genetic treatments" -
|
1. treatment at the level of the protein
2. modulation of gene expression 3. modification of somatic genome by transplantation 4. gene therapy |
|
Functional incease to fixing structural abnormalities of affected proteins is an example of ____
|
treatment at the level of the protein
|
|
What is the only instance that treatment at the level of the protein can't really work with?
|
disorders where functional proteins are not being synthesized
|
|
Treatment at the level of the protein involves enhancement of ___
|
mutant protein function with small molecule therapy
|
|
What does enhancement of mutant protein function with small molecule therapy include?
|
extra cofactors help impaired enzyme, may help fold proteins properly, allow translation to overcome early stop codons.
|
|
Protein augmentation treats at the level of the protein and involves:
|
1. routine therapy for a few diseases
2. involves proteins whose main site of action is plasma or extracellular fluid 3. Example: infusion of factor VIII to enrich plasma and help hemophiliacs |
|
Enzyme replacement in the form of _____treats at teh level of the protein by replacing intracellular enzyme with extracellular version.
|
extracellular augmentation
|
|
An example of extracellular augmentation is?
|
Adenosine deaminase - purines replace and begin filling up in extracellular spaces so give this extracellular protein and block the growth of it.
|
|
Intracellular augmentaiton is used to treat ___-
|
2 lysosomal storage diseases
-1 lipid buildup - 1 glycolipid buildup |
|
What are the limitations to intracellular augmentation?
|
insufficient amounts of infused enzyme can cross blood brain barrier to treat brain forms of the disease , also very expensive
|
|
___ is used to manage hereditary angioedema
|
increased gene expression
|
|
What does increased gene expression involve (modulation of gene expression)
|
some therapeutic effects by boosting transcription of normal or mutant loci containing some function. (use drugs to alter gene expression)
|
|
With ___ normal gene compensates for effect of mutation at another locus.
|
increased gene expression from uneafected locus. (modualtion of gene expression)
|
|
___ could be used in sickle cell or B-thalassemia for cure.
|
increased gene expression from unaffected locus
|
|
_____ reduces the expression of a dominant mutant gene product without altering normal allele production.
|
RNA Interference
|
|
Modification of somatic genome by transplantation is a type of ___
|
gene therapy
|
|
In ___, transplanted cells retain genotype of donor and lead to modifcation of somatic genome.
|
Modification by transplantation
|
|
What are indications for use of genome transplantation?
|
Transplant cells or organs to introduce with copies of a gene into patient with mutations
Used to compensate for organ damaged by genetic disease. |
|
Describe stem-cell transplantation.
|
- stem cells can proliferate to form many differentiated cell types.
- very controversial - could be used to replace cells missing or damaged by disease |
|
during ____ - diploid nucleus is transferred from donor into oocyte.
|
nuclear transplantation
|
|
Nuclear transplantation involves ___
|
creating cloned embryo (therapeutic cloning), to treat monogenic and some complex disorders
|
|
Somatic genome by transplantation may be controversial because of its use of ____
|
human stem cells.
|
|
___ reconstitute blood system after bone marrow transplant.
|
Hematopoetic stem cells
|
|
____ regenerate corneal epithelium
|
corneal stem cells.
|
|
Liver transplantation is useful for treatment of ____
|
some metabolic liver diseases (>24 disorders; 70-85% 5 year survival
|
|
What significant problems in the future are faced by genome transplantation?
|
mortality after transplantation is significant, morbidity is substantial
Finite supply of organs |
|
What does gene therapy involve?
|
use of recombinant DNA technology to treat genetic disease.
introduction of genes into cell and achieval of therapeutic effect. |
|
What are the 8 requirements of gene therapy for inherited disorder.
|
1. identify molecular defecit
2. must isolate functional copy of gene 3. must know the pathophysiology mechanism 4. favorable risk-benefit ratio 5. strong evidence of efficiency and saftey |
|
Adverse condiitons during intrauterine development can result in
|
environmentally induced congenital disorders.
|
|
What is teratology?
|
study of developmental anomalies
|
|
Agents that cause congenital malformations such as radiation, chemicals, viral infections, etc.
|
Teratogens
|
|
Susceptibility of environmentally induced factors depends on :
|
amount of exposure, stage of fetus at time of exposre.
|
|
what are the two stages of fetal vulnerability?
|
1- embryonic
2. fetal |
|
What causes fetal vulnerability?
|
early embryonic exposure (demage to cells damages cells, leaving the fetus vulterable.
|
|
Teratogenic agents interfere with what?
|
cell proliferation, migration differentiation,
|
|
Infectious agents are mostly ___
|
viral
|
|
What is the best known infectious teratogenic agent?
|
Ruella
|
|
What symptoms does rubella cause?
|
cataracts, deafness, heart defects
|
|
What is the TORCH complex of infective disorders
|
List of alll the infective disorders
|
|
Radiation is both ___ and ___
|
Mutagenic, teratogenic
|
