WRITTEN ASSIGNMENT UNIT 7

Spinocerebellar ataxia 1 (SCA1)

Answers:

1. Common symptoms of the disease have been found to be loss of balance and
coordination.

2. The chart shows where the disease first came from by tracing it from the origin and how
it was passed on from generation to generation. The squares represent the males and
the circles represent the females., and regarding the disease, the filled shapes indicate
those family members that are infected and the hollow ones indicate those that are not
infected.

3. I believe the mutation is recessive because as we can see from the chart, the disease is
passed on to future generations and we can also see that at least one family member is
diagnosed with the disease. I believe as from the chart the infected individuals are
homozygous because of an identical gene being passed on. What I can see from the
chart is that the disease has affected men and women equally regards to death total, but
with regard to infection rate, more women are infected with the disease.

4. Mutations in the atxn1 gene are what cause Spinocerebellar ataxia 1. It resides inside of
the gene that makes protein thus causing it to become a polyglutamine and when
reaching a certain level diagnoses of the disease can be made.

5. The organ and cell type that is mostly affected by the disease is the brainstem and also
cerebellum.

6. It is the same because the phenotype of the SCA 1 mouse produces similar symptoms
of SCA 1 as those in human patients.

7. In my opinion, referring to my answer in question 4, I believe that SCA 1 is caused by a

loss of function of the protein affected.

8. “There are many technical advantages of using Drosophila over vertebrate models; they
are easy and inexpensive to culture in laboratory conditions, have a much shorter life
cycle, they produce large numbers of externally laid embryos and they can be
genetically modified in numerous ways.” (Jennings. 2011).

9. “ Here, we report on several lines of evidence demonstrating that Nemo-like kinase

(NLK) is a key molecule modulating disease toxicity in spinocerebellar ataxia type 1
(SCA1), a disease caused by a polyglutamine expansion in the protein ATAXIN1
(ATXN1).”( Ju, et al. 2013). The second part of the answer is also confirmation of my
answers in questions 4 and 7.

References:

Hyoungseok Ju, Hiroshi Kokubu, Tiffany W. Todd, Juliette J. Kahle, Soeun Kim, Ronald
Richman, Karthik Chirala, Harry T. Orr, Huda Y. Zoghbi and Janghoo Lim. (2013).
Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar
Ataxia Type 1. Journal of Neuroscience. 33 (22) 9328-9336;
DOI:https://doi.org/10.1523/JNEUROSCI.3465-12.2013. Retrieved from:
https://www.jneurosci.org/content/33/22/9328

Jennings, H B. (2011). Drosophila – a versatile model in biology & medicine. Materials

Today, Volume 14, Issue 5. https://doi.org/10.1016/S1369-7021(11)70113-4.
ScienceDirect. Retrieved from:
https://www.sciencedirect.com/science/article/pii/S1369702111701134