Cystic Fibrosis

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Cystic Fibrosis

• Gastrointestinal Tract and the Sweat Ducts
• Jason A. Ford

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Cystic Fibrosis

• Autosomal Recessive Gene that affects 1 in 3,200
  births
• Multiple Symptoms
• Chronic Lung Disease
• Extreme Stomach pain and digestive problems
• Increased salt concentration in sweat
• Enlarged liver and spleen
• Infertility in men and women.
• Life expectancy is about thirty years.

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Chromosome 7

• Location of the CFTR gene is 7q31.2
• The intron free mRNA transcript is about 6129
  base pairs
• The protein is 1,480 amino acids.
• The mutated lacks one codon for Phenylalanine
  causing this amino acid to be absent.

The U.S. Department of Energy Biological and
Environmental Research program
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CFTR Protein Function

• Normal function allows Chloride ions to move
  freely through the membranes.
• The mutated form does not allow these ions to
  pass as easily.

Human Genetics, Ricki Lewis (1994), Wm. C. Brown
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Gastrointestinal Tract
Genesis Health Services
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Gastrointestinal Tract

• Malnutrition
• Delayed Growth or Poor Growth
• Weight loss
• Pancreatic Insufficiency

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Sweat Ducts

• The sweat glands reside in the dermis layer of
  the skin
• Two Types
• Eccrine
• Apocrine

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Sweat Ducts
Molson Medical Informatics, McGill University
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Sweat Ducts

• Defective Chloride channels in the sweat ducts
• Loss of excessive salt in the sweat.

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References

• http//www.brown.edu/Courses/Digital_Path/Pancreas
  /cystic_fibrosis.htm
• http//www.wrongdiagnosis.com/c/cf/symptoms.htm
• The U.S. Department of Energy Biological and
  Environmental Research program
• http//kidshealth.org/parent/medical/lungs/cf.html
  
• Human Genetics Concepts and Applications by
  Ricki Lewis (1994), Wm. C. Brown
• 2000 - Molson Medical Informatics, McGill
  University