SCIE-031-2024-Evo&Devo-Movie-Alistair-Lam

By alistair.lam | Updated: March 1, 2024, 6:01 a.m.

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CYSTIC FIBROSIS:
Genetic & Evolutionary Basis
Current Topics in Science
Alistair Lam
Autosomal recessive: inherit both defective copies
Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR)
Affected chloride transport to cell surface = mucus
Lungs (respiratory infection & inflammation), pancreas & liver - malnutrition, male infertility
Background
Significance
Lowers life expectancy
No cure
105,000 people affected worldwide
More than 1,700 mutations
Evolutionary Origin
Morral et al., 1998, 
Nature Genetics
ΔF508 (70% of all mutations)
First happened 52,000 years ago
Disseminated subtypes across Europe over time
Decrease fitness...
Selected against?
Most widespread & deadly!
Affects every demographic
SELECTIVE ADVANTAGE FOR heterozygous carrierS
FAVORED EVOLUTIONARY HYPOTHESIS
Evolutionary Mechanism:
Heterozygous Carrier Advantage
Resistance to cholera toxin (Gabriel et al., 1994, Science)
Decreased susceptibility to typhoid fever (Pier et al., 1998, Nature)
Tuberculosis as historical, geographical & epidemiological driver (Poolman & Galvani, 2007, J R Soc Interface)
Multiple selective pressures
Main References
[4] Poolman, E. M., & Galvani, A. P. (2007). Evaluating candidate agents of selective pressure  
      for cystic fibrosis. Journal of The Royal Society Interface, 4(12), 91–98.    
      https://doi.org/10.1098/rsif.2006.0154
[1] Gabriel, S. E., Brigman, K. N., Koller, B. H., Boucher, R. C., & Stutts, M. J. (1994). Cystic 
      Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model. 
      Science, 266(5182), 107–109. https://doi.org/10.1126/science.7524148

[3] Pier, G. B., Grout, M., Zaidi, T., Meluleni, G., Mueschenborn, S. S., Banting, G., Ratcliff, R., 
      Evans, M. J., & Colledge, W. H. (1998). Salmonella typhi uses CFTR to enter intestinal 
      epithelial cells. Nature, 393(6680), 79–82. https://doi.org/10.1038/30006
[2] Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., 
      Varon-Mateeva, R., Macek, M., Kalaydjieva, L., Angelicheva, D., Dancheva, R., 
      Romeo, G., Russo, M. P., Garnerone, S., Restagno, G., Ferrari, M., Magnani, C., 
      Claustres, M., … Kadasi, L. (1994). The origin of the major cystic fibrosis mutation 
      (ΔF508) in European populations. Nature Genetics, 7(2), 169–175.   
      https://doi.org/10.1038/ng0694-169
About Cystic Fibrosis. (n.d.). Cystic Fibrosis Foundation. Retrieved March 1, 2024, from 
      https://www.cff.org/intro-cf/about-cystic-fibrosis

Background Sources & Image Credits
About Cystic Fibrosis. (n.d.). Image. 
      https://www.siue.edu/~mgriffi/MC_327_Final_Project/AKL-CF.html

SCIE-031-2024-Evo&Devo-Movie-Alistair-Lam

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