1. 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

2. 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:

3. 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

4. References
NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL:
NCBI. Entrez [online] [cited 2004 July 14]. Available at URL:
National Eye Institute. Glaucoma: What you should know [online] [cited July 14]. Available at URL: