Cystic Fibrosis

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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
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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

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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

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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

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Stuff you dont understand!
www.merck.com
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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.