Editing Cystic Fibrosis
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**When 5Ts are present, 10% of mRNA transcripts include exon 9. | **When 5Ts are present, 10% of mRNA transcripts include exon 9. | ||
*When CF is found in the presence of R117H, there is inefficient splicing of the 5T variant, resulting a reduced full-length transcription. | *When CF is found in the presence of R117H, there is inefficient splicing of the 5T variant, resulting a reduced full-length transcription. | ||
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**High levels of R117H yield CBAVD | **High levels of R117H yield CBAVD | ||
**Low levels of R117H yield Chronic lung diease | **Low levels of R117H yield Chronic lung diease | ||
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***'''NB: 95% of males are infertile''' | ***'''NB: 95% of males are infertile''' | ||
**Integumentary: elevated sweat chloride (salty baby syndrome); >60 mEq / L (60 mmol / l) | **Integumentary: elevated sweat chloride (salty baby syndrome); >60 mEq / L (60 mmol / l) | ||
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====CF in the airway epithelium==== | ====CF in the airway epithelium==== | ||
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**Caused by problem in development of Wolffian duct | **Caused by problem in development of Wolffian duct | ||
*Females have some reduction in fertility | *Females have some reduction in fertility | ||
- | *Some otherwise well males have CBAVD Some otherwise well males have CBAVD associated with mutations in CFTR | + | **Some otherwise well males have CBAVD Some otherwise well males have CBAVD associated with mutations in CFTR |
**May be associated with heterozygous or homozygous CFTR condition | **May be associated with heterozygous or homozygous CFTR condition | ||
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*23 mutations are recommended for testing / screening | *23 mutations are recommended for testing / screening | ||
**9 are ''intronic mutations'', (the rest are exonic mutations) 8 are missense, 4 are nonsense, and 2 are in-frame deletions (like deltaF508) | **9 are ''intronic mutations'', (the rest are exonic mutations) 8 are missense, 4 are nonsense, and 2 are in-frame deletions (like deltaF508) | ||
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===Treatment=== | ===Treatment=== | ||
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- | * | + | *Aminoglycoside therapy |
**First, aminoglycosides act as antibiotics | **First, aminoglycosides act as antibiotics | ||
***Effective agains ''pseudomonas aerruginosa'' (a particularly important pathogen in CF pulmonary issues). | ***Effective agains ''pseudomonas aerruginosa'' (a particularly important pathogen in CF pulmonary issues). | ||
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*Other treatments: | *Other treatments: | ||
- | + | **Improve trafficking of CFTR with chaperones, correctors, and PBA (sodium-r-phenylbutyrate | |
- | **Improve trafficking of CFTR with chaperones, correctors, and PBA (sodium-r-phenylbutyrate | + | ***Chaperones: help with folding |
- | ***Chaperones: help with folding | + | ***Correctors: |
- | *** | + | ***PBA: |
- | ***PBA | + | |
**Improve channel function with potentiators | **Improve channel function with potentiators | ||
***Help the channel move Cl- appropriately | ***Help the channel move Cl- appropriately |