Genetic Disorders: ALS
By: Anna Culpepper
Public figures with Lou Gehrig's Disease
- Jon Stone- He was the writer and producer of Sesame Street and he came up with the idea for the characters Big Bird and Cookie Monster. he died on March 30th, 1997 in New York of ALS.
- Lou Gehrig- he was the first baseman for the New York Yankees from June 15th, 1923 to April 30th, 1939. He was diagnosed on June 19th, 1939 which was his 36th birthday. He died on June 2nd, 1941 in the Bronx, NY.
- Stephen Hawking- is a physicist, cosmologist, author, and director of research at the center for Theoretical Cosmology at the University of Cambridge. He was diagnosed in 1963 when he was 21. He is still living at age 74 which is very unusual considering the average age for diagnoses is in the 50's and death usually occurs within the first five years of diagnosis.
Proteins affected by Lou Gehrig's Disease
TDP-43- normally attaches to DNA o regulate transcription and can attach to RNA to help it remain stable
C9ORF72-normally influences the production of RNA and transports RNA within the cell
- Chromosome 9 and 21 are affected
Mutations and Inheritance
TDP-43- Scientists are not positive why this mutation causes ALS, but they know it does. This point mutation may impair the normal process of RNA from many genes, causing ALS and send motor neurons away from the nucleas, to the cytoplasm. There it forms big clumps that can also lead to ALS.
C9ORF72- It is a hexanucleotide repeat mutation that causes ALS due to buildup of RNA that occurs during the mutation and it happens on chromosome 9.
Inheritance- Most cases of Lou Gehrig's disease are dominant, meaning only one copy of the mutated gene is needed. Some cases are recessive though, meaning that two mutated genes are needed.
Techniques used to diagnose and treat ALS
- Blood tests- used to find familial ALS
- MRI- uses magnets and radio waves to form a picture of your nervous system
- Electromyogram- measures electrical signals in your muscles
- Nerve Conduction study- measures electrical nerve impulses
- Tracheotomy- makes it easier to breathe
- Gastrostomy- makes it easier to ear and digest food
- Physical therapy
"Lou Gehrig." - Wikipedia, the Free Encyclopedia. N.p., n.d. Web. 20 Mar. 2016. <https://en.m.wikipedia.org/wiki/Lou_Gehrig>.
"Amyotrophic Lateral Sclerosis." (ALS). N.p., n.d. Web. 15 Mar. 2016. <http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/definition/con-20024397>.
"Genetics of ALS." ALSA.org. N.p., n.d. Web. 15 Mar. 2016. <http://www.alsa.org/2015-non-responsive-pages/research/about-als-research/genetics-of-als.html>.