Genetic Disorders: ALS

By: Anna Culpepper

Summary

Lou Gehrig's disease, or ALS (amyotrophic lateral sclerosis) is a disease that affects the immune system; it weakens muscles and impairs physical functions. About 5,600 people per year are diagnosed with ALS; that's 15 people every day. 30,000 Americans currently have the disease.
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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.

Symptoms

Some symptoms of ALS include problems with coordination, loss of muscle mass, overactive reflexes, fatigue, weight loss, muscle weakness, and difficulty raising foot. Some other common symptoms include vocal spasms, impaired voice, difficulty swallowing, drooling, and constipation.

Proteins affected by Lou Gehrig's Disease

SOD1- normally converts reactive oxygen into water and keeps cells safe from wastes

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

SOD1- ALS is not caused by a loss of these proteins. The A5V mutation that occurs to the SOD1 causes it to clump up in motor neurons. This occurs on chromosome 21. Also, SOD1 could possibly cause astrocytes(other type of cell) to not be able to do their job, which is maintaining motor neurons.

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.

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Techniques used to diagnose and treat ALS

Diagnosis

  • 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

Treatment

Prescription medications

  • Rilutex
  • Zanaflex
  • Baclofen
Procedures

  • Tracheotomy- makes it easier to breathe
  • Gastrostomy- makes it easier to ear and digest food
Therapy

  • Physical therapy

Ethical complications

The major ethical issue associated with ALS is assisted death; this is because it goes against many people's moral and religions to allow someone to die, or to allow themselves to die. Another ethical issue is the numerous amounts of medications and surgeries needed to treat ALS. This is because some believe it is right to die a natural death instead of being in pain and getting surgeries on their bodies.

Bibliography

"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>.