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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**R117H results in functional protein and so is considered a milder form of CF.
 
**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
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*Some otherwise well males have CBAVD Some otherwise well males have CBAVD associated with mutations in CFTR
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**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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====CF and Newborn Screening====
 
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*The newborn screen for CF in Indiana measures immunoreactive trypsin (IRT).
 
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*If immunoreactive trypsin is high, a DNA test is done.
 
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*The DNA test detects 46 of the most common CFTR changes / mutations
 
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**The test may find 1 or more mutation in the pt.
 
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**Note that the implication of a positive mutation identification in CFTR is not always clear.
 
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*A sweat test is done to confirm a cystic fibrosis disease state in the newborn.
 
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*Counseling and treatment follow the screening / genetic confirmation / sweat confirmation.
 
===Treatment===
===Treatment===
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*'''Aminoglycoside therapy'''
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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:
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**You don't need to know the chemicals)
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**Improve trafficking of CFTR with chaperones, correctors, and PBA (sodium-r-phenylbutyrate
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**Improve trafficking of CFTR with chaperones, correctors, and PBA (sodium-r-phenylbutyrate)
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***Chaperones: help with folding
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***Chaperones: help with folding and getting to the surface of the cell
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***Correctors:
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***"Correctors"
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***PBA:
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***PBA
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**Improve channel function with potentiators
**Improve channel function with potentiators
***Help the channel move Cl- appropriately
***Help the channel move Cl- appropriately

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