Cystic Fibrosis

Gastrointestinal Tract and the Sweat Ducts

Jason A. Ford

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.

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

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

Gastrointestinal Tract

Genesis Health Services

Gastrointestinal Tract

• Malnutrition

• Delayed Growth or Poor Growth

• Weight loss

• Pancreatic Insufficiency

Sweat Ducts

• The sweat glands reside in the dermis layer of the skin

• Two Types– Eccrine– Apocrine

Sweat Ducts

Molson Medical Informatics, McGill University

Sweat Ducts

• Defective Chloride channels in the sweat ducts

• Loss of excessive salt in the sweat.

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