1. Protein Folding Diseases
By James Bush
Biochemistry 658

2. Prions
Naturally synthesized glycoproteins containing two carbohydrate chains and a lipid base
Infectious and can misfold on their own
One particular prion pertinent to health and food industries is the PrP/PrPsc prion

3. Creutzfeldt-Jakob Syndrome
Also known as human spongiform encephalopathy
Caused by the prion PrPsc which have many β-pleated sheets rather than a normal PrP prion composed of α-heli
Symptoms include dementia, muscular degeneration and myoclonus

4. Huntington’s Disease Inherited progressive neurodegenerative disorder
Caused by a CAG or threonine repeat in the HTT gene resulting a glutamine stretch at the N-terminal end of the Huntington protein
Symptoms are loss of controlled movement and intellectual abilities

5. Alzheimer’s
Disorder of two types: adult onset usually recognizable at the age of and the rare early onset seen in young individuals
Adult onset has been traced to genes located on chromosome 19 coding for proteins involved in cholesterol transport
Early onset has been traced to chromosomes 1, 14, 19, 21
Believed cause is the folding of subunits of amyloid proteins causing plaques and neurofibrillary tangles deposited inside neurons

6. Sickle Cell Anemia
Inherited disorder characterized by the production of abnormal hemoglobin
Caused by mutation of amino acid sequence in the beta chains of the hemoglobin (Hb) molecules
Upon full capacity of oxygen molecules (4), the RBC looks normal yet after distribution of 2 O2 appearance changes to sickle shaped form

7. References
Campbell, Mary K., and Shawn O. Farrell. Biochemistry. Belmont: Brooks/Cole Cengage Learning, th edition
Evers, M., et al. “Targeting several CAG expansion diseases by a single antisense oligonucleotide.” PLoS One. 2011;6(9):e Epub Sep 1.University of New Hampshire at Manchester Library February 2012 <
Goodsell, David. “Prions”, Ltd. 15 February May pdb.org. < >
Martini, Frederic H., and Judi L. Nath. Fundamentals of Anatomy and Physiology. San Francisco: Pearson Education, th edition