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57 Cards in this Set

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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