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30 Cards in this Set
- Front
- Back
what is the most common single gene letahl disorder among caucasians
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cystic fibrosis
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how is cystic fibrosis inherited
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autosomal recessive
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what organ systems are effected in cystic fibrosis
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lung, exocrine pancreas, GI, sweat glands, reproductive system
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if a patient has a family history of cystic fibrosis, what else must be analyzed to confirm CF
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increased sweat electrolyte concentrations
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what is the primary defect in cystic fibrosis
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defective cloride channel of epithelial cells of affected organs
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sweat glands contain ___ epithelial cells in the coil and ___ cells in the duct
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secretory/absorptive
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what part of the sweat gland lacks cystic fibrosis transmembrane conductane regulators that is usually a sign of CF
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ductal absorptive cells
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according to the high salt theory involving airway epithelia of CF, a greater than normal concentration of NaCl would lead to
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ingibition of natural antimicrobial activity in lung
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according to the low volume theory of CF, chloride is absorbed by non-CFTR mechanisms and the sodium channel is hyperactive leading to...
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dehydration of lung secretion
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in the exocrine pancrease what happens to the pancreas
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occlusion of ducts
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if a child is born with CF, there maybe problems with the small intestine due to...
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inability to pass meconium (intestinal blockage in first day or two of life)
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what is thought to cause infertility in CF patients
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thick secretions
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CFTR is a unique member of what transport protein family
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ATP Binding Cassette
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what must happen to the regulatory domain of CFTR channel
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it must be phosphorylated
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if ATP binds to NBD1 the channel will ____, but if it binds to NBD2 the channel will ____.
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open/close
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a single mutation in the CFTR gene will cause CF (most commonly), this is known as delta F508, but what amino acid is not present
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Phenylalanine
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a defective protein production of CFTR is known as...
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Class I mutation
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a defective protein processing of CFTR is known as...
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Class II mutation
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defective regulation of CFTR is known as a...
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Class III mutation
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defective conductance of the CFTR is known as...
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Class IV mutation
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Reduced levels of "normal" CFTR is known as...
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Class V mutation
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what effect does aerosolized rhDNAse have on a patient with CF
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reduces DNA from lysed bacteria and WBC's in lung
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what is the name of the drug that can overcome Type I mutations which involve premature stop codons
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Gentamicin
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what drug helps to overcome Type II mutations by binding to the deltaF508 CFTR and allowing it to be more efficiently tranported to the plasma membrane
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CPX
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what drug interferes with the normal chaperones which target deltaF508 for destruction, allowing more of it to be expressed at the plasma membrane
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Curcumin
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what drug improves expression of CFTR by decreasing expression of some protein trafficking genes
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phenylbutyrate
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what can be given to increase cloride conductance by deltaF508 CFTR
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milrinone
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what drug increases chloride channel activity by CFTR
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genistein
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what drug, presently in clinical trials, inhibits EnaC and stimulates calcium dependent chloride channels in lung
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P2Y2
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gene thrapy is thought to be most prmising by using what type of vector
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liposomes
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