Genomics and Me: Living with a Cystic Fibrosis Family S. Carlson BL 3300 06 December 2002
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Genomics and Me:Living with a Cystic Fibrosis
Family
S. CarlsonBL 3300
06 December 2002
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What is Cystic Fibrosis? Also called CF Autosomal recessive inherited disorder Affects respiratory, digestive, and
reproductive systems 1 in ~2000 births Most common lethal genetic disease in
Caucasions– 1 in ~200 births
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Graphic Source: Welsh, Michael J., and Smith, Alan E. Scientific American, December 1995 http://www.people.virginia.edu/~rjh9u/cfsciam.htmc
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Gene discovered in 1989
Dr. Lap-Chee Tsui Dr. Jack Riordan Chromosome 7 Cystic Fibrosis
Transmembrane Conductance Regulator (CFTR)
Graphic Source: NCBI The Human Gene Map http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?CFTR
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CFTR Gene
Long arm of chrom 7
Over 6000 nucleotides
Spread over 27 exons
Graphic Source: “CF Pictures” http://personal.nbnet.nb.ca/normap/cfpictures.htm
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One Amino Acid Since discovery of CFTR in 1989, over
900 mutations associated with CF Most common: deletion of one
phenylalanine residue at position 508 (F508)
Accounts for 70% of all CF alleles worldwide
Phenylalanine (f, Phe)Graphic Source: www.chemfinder.com
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What does CFTR do?
Regulates cAMP pumps– Cl- channels– Na+ / Cl- equilibrium– Water balances concentration of Na+ and
Cl- across cell– Fluid secretion
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Mutated CFTR In CF patients, Cl- channel regulated by
CFTR is closed Decrease of Cl- secretion Increase in Na+ transport in volume-absorbing
epithelia due to increase in Na+ channel activity
Results– Thick sticky mucous in lungs
• Environment for bacteria to grow
– CFTR pumps in liver and pancreas also affected
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My Family Tree
Graphic Source: “Facts About Cystic Fibrosis” http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm#what
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CF in My Family
August 18, 1985 – Lyn Carlson born Colicky baby? Crying, no weight gain due to lack of
nutrition from food Diagnosed with cystic fibrosis
– 65 Roses? Enzyme supplements Respiratory Therapy
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Treatment Preventative
– Postural drainage– Positive expiratory pressure (PEP) mask– Flutter valve
Lung infection– Vaccines– Antibiotics
Enzyme Regulation Diet Regulation
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Complication: CFRD
Cystic Fibrosis Related Diabetes (CFRD)
Depressed pancreatic insulin production– Insulin injections– Additional diet regulation
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Complication: Depression
Adolescents deal with tough issues Lyn
– Anorexia– Bulemia– Depression– Feeling out of control of life
Symptoms aren’t published
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Am I a Carrier?
Genetic counseling The “odds” Insurance discrimination
– Widespread confusion over difference between being a carrier of a genetic disease and actually having disease
– Few legal safeguards to protect genetic “carriers”– Since then, legislation passed in some states – Husband to be tested
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Hope for a Cure Gene therapy
– Introduce healthy CFTR gene into CF cells– Virus (vector) introduces gene
Research has established that:– Gene transfer is possible– Expression of transferred gene is possible
in humans– Expression sufficient to compensate for
CFTR deficiency– Ebola, influenza may be promising leads
Some unanswered questions
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Genomics and Me
Behavior as a child Choice of Michigan Tech Decision to have children Decision to become a doctor
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Lyn Carlson – Age 17 and Doing Well!
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Questions?
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References NCBI The Human Gene Map http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?CFTR Welsh, Michael J., and Smith, Alan E. Scientific American, December 1995 http://www.people.virginia.
edu/~rjh9u/cfsciam.htmc Bland, Amy, Gibson, Kevin, and Mayorga, Angela. Cystic Fibrosis.
http://medicine.creighton.edu/forpatients/CF/cf.html CF Currents: At Home Edition. Winter 1994, Vol. 2, No. 1. McNeil Pharmaceutical Co.,
Raritan, NJ. CF Currents: At Home Edition. Fall 1997, Vol. 5, No. 3. McNeil PharmaceuticalCo., Raritan,
NJ. “CF Pictures” http://personal.nbnet.nb.ca/normap/cfpictures.htm Cystic Fibrosis Central Florida Support Group. CF Informer. Nov-Dec. 2000, Vol. XIV,
Orlando, FL. Cystic Fibrosis Central Florida Support Group. CF Informer. Jan-Feb 1999, Vol. X, Orlando,
FL. “Facts About Cystic Fibrosis” http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm#what Orenstein, David M. Cystic Fibrosis: A Guide for Patient and Family. 1997.Lippincott-Raven
Publishers, Philadelphia PA. http://www.cysticfibrosis.com/ http://www.hum-molgen.de/bb/Forum7/HTML/000268.html http://www.chemfinder.com