What does this protein make up or do? ALS or Lou Gehrig’ Disease Chapter 9: Chromosome 9 DNA Sequence 27,322 Chromosome Name of Protein 9 Name of Gene c9orf72 c9orf72 transcription 481 aa Amino acid sequence mRNA translation Cytoplasm A Cell Nucleus What does this protein make up or do? It could cause a build up of RNA Condition/Disease ALS or Lou Gehrig’ Disease

Description of ALS Symptoms and characteristics •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 glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of ALS (cont.) Who is affected? 60% of victims are men 93% of victims are Caucasian Between the age of 40 and 70 Outlook or quality of life 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 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..ShowSection&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. National Eye Institute. Glaucoma: What you should know [online]. 2004. [cited July 14]. Available at URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp.