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Prions Disease: Creutzfeldt-Jakob's Disease

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Belle Eden

on 29 October 2013

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Transcript of Prions Disease: Creutzfeldt-Jakob's Disease

Key Concept 1: Transmission and Diagnosis of CJD
Diagnosis of Classical (sporadic) CJD
Symptomatic
Age
Symptoms
Key Concept 2: The Mystery of Prion Diseases
Prusiner's hypothesis has recently been shown to be viable
Genetic mutation not transmitted genetically (except for FFI)
Nearly indestructible by normal means of sterilization
Unknown phyhsiological function of PRP
Discussion
1. Considering the virtual indestructibility of defective PRP genes, should extra regulations on hospital sanitation be applied when dealing with prions contaminated materials?
2. Direct injection of prions disease, human or animal, causes the disease incubation to begin in the injected specimen. How does this affect the concept of a species barrier?
3. What challenges do researchers face when researching CJD, considering the accelerated decline of the patients?
Prions Disease: Creutzfeldt-Jakob's Disease
Creutzfeldt-Jakob's Disease
Neuro-degenerative disease
PRP (Protease-resistant protein gene)
Median age of death: 68 years
Symptoms: Personality changes, anxiety, dementia, insomnia, depression
90% die within a year of diagnosis
1 in a million people contract CJD a year

Transmission
Diet
Surgery
Spontaneity
Blood Transfusions
PrP Gene
Key Concepts
1. The Transmission and Diagnosis of CJD
2. Mystery of Prions disease
Works Cited
Works Cited
CDC. "Prion Diseases." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 10 Dec. 2012. Web. 28 Oct. 2013.
Gee, Henry. "Molecular Evolution of Prions." Molecular Evolution of Prions. Nature.com, 9 May 1996. Web. 11 Oct. 2013.
Huson, H. J., and G. M. Happ. "Polymorphisms of the Prion Protein Gene (PRNP ) in Alaskan Moose (Alces Alces Gigas)." Animal Genetics 37.4 (2006): 425-26. NCBI. Web. 13 Oct. 2013.
Kniffin, Cassandra L. "Fatal Familial Insomnia; FFI." OMIM. John Hopkins University, 25 Sept. 2012. Web. 15 Oct. 2013.
Lantos, J. N. "Prions-What Are They?" YouTube. YouTube, 20 July 2012. Web. 21 Oct. 2013.
Mayo Clinic Staff. "Creutzfeldt-Jakob Disease." Mayo Clinic. Mayo Foundation for Medical Education and Research, 23 Oct. 2012. Web. 11 Oct. 2013.
"Mutations and Normal Polymorphisms in the Prion Protein Gene (PRNP)open Reading Frame." Mutations in Prion Protein Gene. World Federation of Scientists, n.d. Web. 13 Oct. 2013.
Poser, Sigrid. "How to Improve the Clinical Diagnosis of Creutzfeldt-Jakob Disease." Brain: A Journal of Neurology 122.12 (1999): 2345-351. Oxford University Press. Web. 11 Oct. 2013.
"Proteases in Enzyme Therapy." Protease. Enzyme Essentials, LLC, n.d. Web. 11 Oct. 2013.
Prusiner, Stanley B. "Prions." PNAS 95.23 (1998): 13363-3383. PNAS. Web. 11 Oct. 2013.
Qin, K., M. O’Donnell, and R.Y. Zhao. "Doppel: More Rival than Double to Prion." Neuroscience 141.1 (2006): 1-8. Science Direct. Web. 12 Oct. 2013.
Ridley, Matt. "Chromosome 20: Politics." Genome: The Autobiography of a Species in 23 Chapters. New York: HarperCollins, 1999. 271-85. Print.
Soto, Claudio. Prions: The New Biology of Proteins. Boca Raton: CRC/Taylor & Francis, 2006. Print.
Tschampa, H.J., K. Kallenberg, H.A. Kretzschmar, B. Meissner, M. Knauth, H. Urbach, and I. Zerr. "Pattern of Cortical Changes in Sporadic Creutzfeldt-Jakob Disease." American Journal of Neuroradiology 28.6 (2007): 1114-118. American Journal of Neuroradiology. Web. 13 Oct. 2013.
UCSF Memory and Aging Center. "Creutzfeldt-Jakob Disease (CJD)." UCSF Memory and Aging Center |. University of California, San Francisco, n.d. Web. 12 Oct. 2013.
Young, Choi Pyo. "PrPSc Complexity in Different Forms of Creutzfeldt-Jakob Disease Identified Using Biochemical Approaches." Diss. The University of Edinburgh, 2010. Abstract. (n.d.): n. pag. Edinburgh Research Archive. Web. 12 Oct. 2013.
Forms of Human Prion Disease
Sporadic CJD
Variant CJD
Fatal Familial Insomnia
Gerstmann-Straussler-Scheinker Syndrome
Kuru
Diagnosis
Lumbar puncture
EEG
MRI
CT
Treatments
Symptomatic treatment
SSRIs
Anti-epileptic
Anti-psychotics
Clinical Research
Scrapie- sheep
Bovine spongiform encephalopathy (BSE)
aka Mad Cow Disease
PRP gene found in cattle shares two biochemical features with human PRP gene
Connections to Other Prion Diseases
Though the function of the PRP gene is unknown, would it be advisable to knock out the PRP gene in human embryos to lessen their slight chance of developing CJD? Explain why or why not. Would it be more understandable in fatal familial insomnia?
Full transcript