1] Based on this video, describe the symptoms of the SCA1 disease.
The symtoms of the SCA1 disease include loss of balance and coordination due to Purkinje cells and additional neurons that degenerate. The disease is progressive and after balance and coordination issues, new problems arise with choking, breathing and swallowing. In addition, SCA1 disease may cause patients have difficulty talking and severe muscle deterioration.
2] Explain how to read the chart by indicating what the squares and circles represent and what is the difference between filled and hollow shapes.
A completely shaded square or circle indicates that the person has the genetic disease (problem with balance and coordination).
Square is male and circle is female.…show more content… SCA1 is caused by expansion of unstable CAG repeat. The longer the CAG repeat the earlier the age of onset. CAG encodes for amino acid glutamine. A heterozygous abnormal (CAG)n trinucleotide in ATXN1 gene, on chromosome 6p22, containing an abnormally lengthened stretch of amino acid glutamine.
5] Which organ and cell type are primary affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
This neurodegenerative disease is considered by a progressive loss of cerebellar neurons, particularly the Purkinje neurons. SCA1 does not have specific clinical phenotypes but it is usually characterized by considering the family history, the progressive cerebellar ataxia, Dysarthria and the eventual deterioration of bulbar functions
6] From the video describe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?
The phenotype of the SCA1 mouse is that it cannot stay on the rod due to balance issues and cannot keep up with the rotating rod.
Yes, it is similar to symptoms observed in SCA1…show more content… 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.
The advantages of using a Drosophila model over a mouse one is that you have thousands of flies that have been genetically engineered to either have extra copies of gene or to lack a copy of a gene. Scientists can add chaperones in Drosophila model to show suppression of degeneration. You can find disease modifiers when using a Drosophila model.
9] Use 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?
The protein kinase they found to be implicated in SCA1 associated neurodegeneration is protein kinase AKT which phosphorylates protein ataxin-1. This knowledge is useful with respect to treating the disease because they determined that if they decrease the level of protein kinase AKT by deleting a copy of the gene (making the gene a minus), it can suppress the neurodegeneration. This discovery is exciting as scientists can try to find some kinase inhibitors.
