Treatment of genetic diseases Flashcards
What is the objective of treating genetic disease?
To eliminate or ameliorate the effects of the disorder on the patient and family by replacing defective proteins, improving function, or minimizing deficiency consequences.
At what levels can genetic diseases be treated?
From the mutant gene to the clinical phenotype, including both medical and surgical interventions.
What is SCID and how is it treated?
SCID is a genetic disorder causing severe immune deficiency. It is treated through bone marrow transplants or gene therapy.
Why are inborn errors of metabolism significant in genetic disease treatment?
Treatment is more advanced for inborn errors than most other genetic disorders, with success linked to understanding the biochemical defect.
How is Classic Phenylketonuria (PKU) treated?
By restricting dietary phenylalanine to normalize Phe and Tyr levels, preventing cognitive deficits.
What are the early symptoms of Maple Syrup Urine Disease?
A maple syrup odor in cerumen, irritability, ketonuria, poor feeding, and encephalopathy by 4-5 days of age.
What is the mainstay of treatment for MSUD?
Dietary restriction of branched-chain amino acids to prevent toxic metabolites and preserve intellectual function.
What are the nine different approaches for treating inborn errors of metabolism?
Multiple approaches including dietary modifications, enzyme replacement, or removing toxic metabolites can be used depending on the disease.
What are the principal strategies for manipulating metabolism in genetic diseases?
Providing essential metabolites, enzyme inhibition, receptor antagonism, and depletion of harmful compounds.
How is congenital hypothyroidism treated?
With early thyroxine administration to prevent intellectual defects, identified via neonatal screening.
How does enzyme inhibition help treat genetic diseases?
It reduces the impact of metabolic abnormalities, as in treating familial hypercholesterolemia with statins to inhibit cholesterol synthesis.
How is receptor antagonism used in treating Marfan Syndrome?
Losartan, an antihypertensive agent, is used to attenuate TGF-β signaling and slow aortic root dilation.
What depletion therapy is used for familial hypercholesterolemia?
Apheresis removes LDL from the bloodstream when other treatments fail to lower LDL levels.
How can the function of an affected gene or protein be increased in genetic diseases?
Through therapies like enzyme replacement, small molecules, antisense oligonucleotides (ASOs), or pharmacological chaperones
How do pharmacological chaperones treat Cystic Fibrosis?
They correct the folding and trafficking defect of the ΔF508 CFTR protein, with lumacaftor (VX-809) as one example.
