Transcript Cystic Fibrosis - Bellarmine University

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
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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
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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/Pan
creas/cystic_fibrosis.htm
• http://www.wrongdiagnosis.com/c/cf/symptoms.h
tm
• 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