Gene Therapy Flashcards
What is gene therapy
Treatment of a disease by the transfer of genetic material into a patient’s cell
What are chromosomal disorders
Excess or loss of chromosomes
What are monogenic disorders
- Inherited disorders caused by a mutation of a single gene
- Autosomal dominant
- Autosomal recessive
- X-linked recessive
What are polygenic disorders
Diseases associated with multiple genes
What is the consequence of mutations within coding regions (exons)
Leads to non-functional proteins
What is the consequence of mutations outside of coding regions (introns)
Can cause alterations in efficiency of transcription, translation and splicing
What are the types of mutation
- Silent mutation
- Conservative missense mutation
- Non-conservative missense mutation
- Nonsense mutation
- Frame-shift mutation
What is a silent mutation
A single base change has no effect on the amino acid
What is a conservative missense mutation
A single base change has changed the amino acid to one that has similar functional groups
What is a non-conservative missense mutation
The amino acid cannot function similarly to the wildtype sequence
What is a nonsense mutation
The base substitution leads to a STOP codon, the rest of the sequence is not translated
What is a frame-shift mutation
The addition or deletion of a nucleotide alters the reading frame and changes all the codons after the mutation
How does frame-shift mutation occur
During DNA replication there is strong strand slippage
What was the first licensed gene therapy drug
Glybera for lipoprotein lipase deficiency
Features of somatic gene therapy
Confined to the patient
