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Genomics and Me: Living with a Cystic Fibrosis Family S. Carlson BL 3300 06 December 2002 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 Graphic Source: Welsh, Michael J., and Smith, Alan E. Scientific American, December 1995 http://www.people.virginia.edu/~rj h9u/cfsciam.htmc 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 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 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 What does CFTR do? Regulates cAMP pumps – Cl- channels – Na+ / Cl- equilibrium – Water balances concentration of Na+ and Cl- across cell – Fluid secretion Mutated CFTR In CF patients, Cl- channel regulated by CFTR is closed Decrease of Cl- secretion Increase in Na+ transport in volumeabsorbing 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 My Family Tree Graphic Source: “Facts About Cystic Fibrosis” http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm#what 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 Treatment Preventative – Postural drainage – Positive expiratory pressure (PEP) mask – Flutter valve Lung infection – Vaccines – Antibiotics Enzyme Regulation Diet Regulation Complication: CFRD Cystic Fibrosis Related Diabetes (CFRD) Depressed pancreatic insulin production – Insulin injections – Additional diet regulation Complication: Depression Adolescents deal with tough issues Lyn – Anorexia – Bulemia – Depression – Feeling out of control of life Symptoms aren’t published 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 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 Genomics and Me Behavior as a child Choice of Michigan Tech Decision to have children Decision to become a doctor Lyn Carlson – Age 17 and Doing Well! Questions? References NCBI The Human Gene Map http://www.ncbi.nlm.nih.gov/cgibin/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