What does this protein make up or do? Chapter 1: Chromosome 20 DNA Sequence Chromosome 15,438bp Name of Protein 20 Name of Gene prion protein PRNP transcription Amino acid sequence mRNA 73 aa translation Cytoplasm What does this protein make up or do? A Cell Nucleus The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. Condition/Disease Huntington

Description of Huntington Symptoms and characteristics A particular type of mutation in the PRNP gene has been found to cause signs and symptoms that resemble those of Huntington disease, including uncontrolled movements, emotional problems, and loss of thinking ability. Involuntary jerking or writhing movements (chorea) Muscle problems, such as rigidity or muscle contracture (dystonia) Slow or abnormal eye movements Impaired gait, posture and balance Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of Huntington Who is affected? Anyone, but the following have a higher risk: HD affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50/50 chance of inheriting the fatal gene. Everyone who carries the gene will develop the disease. Outlook or quality of life No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders. Researcher: AA

References http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127. http://www.hdsa.org/about/our-mission/what-is-hd.html http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/treatment/con-20030685 http://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=full_report&list_uids=5621 http://ghr.nlm.nih.gov/gene/PRNP http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/symptoms/con-20030685