Craig at broombio.demon.co.uk
Wed Feb 21 06:03:56 EST 1996
In article: <4gdjsr$mqc at ns2.ryerson.ca> nmarsden at acs.ryerson.ca (Neil
Marsden - CABC/W95) writes:
> Shane (wegfn08 at ucl.ac.uk) wrote:
> : from wegfn08 at ucl.ac.uk
> : I am a first year biology student and need info on cystic fibrosis
> : and sweat glands and carrier proteins and the ions necessary for
> : reabsorbtion any help would be a great help
> : thanks
> : shane Lynch
Apparently the CFTR protein represents some sort of transmembrane ion
channel that has a sort of "ball and chain" configuration, with the "ball"
fitting neatly into the ion channel to stop ion flux. Energy is required to
move this "ball" and allow ions to flow. This is provided by two ATPase
sites on the protein (I think).
The mutations that cause CF are numerous and there is evidence that there is
a variation in the severity of CF (e.g. pancreatic involvement/ no
pancreatic involvment) depending on which mutation is causing the disease.
Mutations that disrupt the ATPase sites cause the most severe disease whilst
mutations that affect the "ball" the least severe disease.
For diagnosis of the disease a test called the sweat test is usually
performed. This involves collecting the sweat and measuring the amount of
sodium and chloride. A raised chloride (> 50 mmol) is indicative of cystic
fibrosis. Genetic diagnosis is also now avaliable. Most centres can also
carrier screen for the most common mutations (e.g. delta 508)
I hope this is right, I'm just trying to remember a lecture I attended some
months ago so I'd check the above !
I hope this helps and that someone will correct any mistakes I have made.
Craig Webster | Tel: 01245 442700
Grade B Clinical Biochemist| Fax: 01245 514077
Broomfield Hospital | email (work) cwebster at broombio.demon.co.uk
Chelmsford, CM1 5ET | (home) cwebster at bimbo.demon.co.uk
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