Chapter 9 Chromosome 9 DNA Sequence Chromosome 9

Chapter 9: Chromosome 9 DNA Sequence Chromosome 9 Name of Gene c 9 orf 72 27, 322 Name of Protein c 9 orf 72 transcription m. RNA Amino acid sequence 481 aa translation What does this protein make up or do? It could cause a build up of RNA Condition/Disease ALS or Lou Gehrig’

Description of ALS n Symptoms and characteristics n n n • Difficulty walking, tripping or difficulty doing your normal daily activities. • Weakness in your leg, feet or ankles. • Hand weakness or clumsiness. • Slurring of speech or trouble swallowing. • Muscle cramps and twitching in your arms, shoulders and tongue. Normal Vision As viewed by a person with Pictures used with permission from glaucoma URL: http: //www. nei. nih. gov/health/glauco ma/glaucoma_facts. asp

Description of ALS (cont. ) n Who is affected? n 60% of victims are men n 93% of victims are Caucasian Between the age of 40 and 70 n n Outlook or quality of life n n n With early treatment, eyes may be protected from serious vision loss Without treatment, individuals develop tunnel vision (only straight -ahead vision) and, over time, no vision (blindness). Treatments include medicine, laser procedure and/or surgery. There is no cure for glaucoma; Vision that is lost cannot be restored. Researcher: RM

References n NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http: //www. ncbi. nlm. nih. gov/books/bv. fcgi? call=bv. View. . Show. Section&rid=gnd. section. 127. n NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http: //www. ncbi. nih. gov/Entrez/. n National Eye Institute. Glaucoma: What you should know [online]. 2004. [cited July 14]. Available at URL: http: //www. nei. nih. gov/health/glaucoma_facts. asp.