Topic SCA 1:

OMIM Information: https://www.omim.org/entry/164400?search=sca%201&highlight=1%20sca

Video: https://www.youtube.com/watch?v=SXnnBTXFIWk

Question 4:Based on the descriptions in OMIM and the information from the video, indicate what genetic mutation is responsible for the SCA1 disease and what consequence it has on protein primary structure.

Question 5:Which organ and cell types are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?

Mice are generally a good model for human diseases, if you wish, you can read more about the benefits of the mouse model on The Jackson Laboratory websitehttps://www.jax.org/why-the-mouse/genetics"Advantages of the mouse as a model organism".

Mouse models of SCA1 have been developed and helped researchers to understand this disease and to experiment new treatments.

Question 6:From the videodescribe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?

Question 7:Is SCA1 considered to be caused by a loss of function of the protein affected, or is it thought to be due to another mechanism?

Question 8:Based on the findings from the mouse model, researchers then developed an SCA1 model in Drosophila - what are the advantages of using a Drosophila model over a mouse one

Question 9:Using the Drosophila model of SCA1, what was the protein kinase they found to be implicated in SCA1 associated neurodegeneration and why is this knowledge useful with respect to treating the disease?