Transcript Cystic Fibrosis

Cystic Fibrosis
Hereditary
Affects
systems
Most
births
1
recessive trait disease
the respiratory, digestive and reproductive
common in Caucasian population 1 in 2,500
in 31 Caucasians in America are carriers
Average
No
life span 30 years
cure
Bupa.com
CFTR Protein
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Cystic fibrosis transmembrane conductance regulator
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Affects the CFTR gene: locus 7q31.2 in the q31.2 long arm of
chromosome 7
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CFTR protein 1480 amino acids long
Traffic ATPase or ABC transporter
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Transports sugars, peptides, inorganic phosphate, chloride and
metal cations across membrane
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Chloride channel protein found in cell lining of lungs, liver, pancreas,
intestines, reproductive tract and skin
What it does
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Defect in the CFTR gene that
codes sodium and chloride
transporter located in the lining
of lungs and other organs
500 different mutations most
common found on delta F508
causing loss of chloride ion
Pathways
Normal
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CFTR protein is synthesized
Transported to the endoplasmic
reticulum and Golgi apparatus in
order for integration to take place
Sodium and chloride ion are
transported which creates a thin
mucus layer in the lungs and other
organs
The mucus and cilia lining
captures bacteria that cause
infections
http://www.hipusa.com/eTools/webmd/A-Z_Encyclopedia/CysticFibrosis.jpg
Stuff you don’t understand!
www.merck.com
I don’t know if this is my part so I just copied and
pasted this I can rewrite it if it is needed
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The thick mucus also obstructs the ducts of the pancreas,
preventing digestive enzymes from reaching the intestines. So those
with CF do not absorb nutrients from their food well, and they
eliminate non-digested food through the bowel, resulting in very
large stools. Because so little food is absorbed, those with CF have
difficulty gaining and maintaining weight, despite a healthy appetite
and diet.
CF also affects the reproductive systems of both males and females.
Although females with CF have normal fallopian tubes and ovaries,
their thick cervical secretions may block sperm entry and prevent
them from getting pregnant. Males with CF are almost always sterile
because they produce relatively few or no sperm. Also, abnormally
thick secretions may block the ducts that carry sperm, or the ducts
may not develop properly.