Cystic Fibrosis - PowerPoint PPT Presentation

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Cystic Fibrosis

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Cystic Fibrosis. Hereditary recessive trait disease. Affects the respiratory, ... Cystic fibrosis transmembrane conductance regulator ... – PowerPoint PPT presentation

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Title: Cystic Fibrosis


1
Cystic Fibrosis
  • Hereditary recessive trait disease
  • Affects the respiratory, digestive and
    reproductive systems
  • Most common in Caucasian population 1 in 2,500
    births
  • 1 in 31 Caucasians in America are carriers
  • Average life span 30 years
  • No cure

Bupa.com
2
CFTR Protein
  • Cystic fibrosis transmembrane conductance
    regulator
  • Affects the CFTR gene locus 7q31.2 in the q31.2
    long arm of chromosome 7
  • CFTR protein 1480 amino acids long
  • Traffic ATPase or ABC transporter
  • Transports sugars, peptides, inorganic phosphate,
    chloride and metal cations across membrane
  • Chloride channel protein found in cell lining of
    lungs, liver, pancreas, intestines, reproductive
    tract and skin

3
What it does
  • 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

4
Pathways
  • Normal
  • 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_Encyclopedi
a/CysticFibrosis.jpg
5
Stuff you dont understand!
www.merck.com
6
I dont know if this is my part so I just copied
and pasted this I can rewrite it if it is needed
  • 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.
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