The purpose of this project is to familiarize you with the method going from the characterization of a illness in human sufferers, to the identification of a mutated gene inflicting it, to the usage of a mouse mannequin to research how this mutation is inflicting the illness. You’ll be taught concerning the spinocerebellar ataxia 1 (SCA1) genetic illness for example of such a course of.
This project is impressed by and makes use of content material from, the lecture “A Wholesome Nervous System: A Delicate Stability” on BioInteractive. Watch the video, (it could even be helpful to obtain the transcript for reference) and reply the questions under.
Question Assignment 1: Based mostly on this video, describe the signs of the SCA1 illness.
SCA1 is a familial illness as indicated by the pedigree Assessment chart proven on the video and within the picture under.
Tracing Household Historical past
Question Assignment 2: Clarify how you can learn the chart by indicating what the squares and circles signify and what’s the distinction between crammed and hole shapes.
Question Assignment three: Focus on what conclusions may be drawn from the pedigree eg assuming that the illness is brought on by the mutation of 1 single gene, do you suppose this mutation is recessive or dominant? Are the affected people extra more likely to be heterozygous or homozygous for this mutation? Is the illness affecting equally women and men? For every conclusion, be certain that to elucidate how it’s supported by the pedigree.
The On-line Mendelian Inheritance in Man (OMIM) database is a incessantly up to date database of human genes and genetic ailments. Seek for SCA1 on OMIM. Learn shortly via the web page to get a common concept of the forms of info that may be discovered on it and the way they’re introduced. Establish the gene whose mutation is answerable for the SCA1 illness, seek for it on OMIM and have a fast have a look at the corresponding web page.
Question Assignment four: Based mostly on the descriptions in OMIM and the data from the video, point out what genetic mutation is answerable for the SCA1 illness and what consequence it has on protein main construction.
Question Assignment 5: Which organ and cell sort are primarily affected by the mutation? Is that this in step with the signs noticed in SCA1 sufferers?
Mice are typically a superb mannequin for human ailments, if you want, you’ll be able to learn extra about the advantages of the mouse mannequin on The Jackson Laboratory web site Benefits of the mouse as a mannequin organism.
Mouse fashions of SCA1 have been developed and helped researchers to know this illness and to experiment new therapies.
Question Assignment 6: From the video describe the phenotype of the SCA1 mouse. Is it much like signs noticed in SCA1 sufferers?
Question Assignment 7: Is SCA1 thought-about to be brought on by a lack of perform of the protein affected, or is it considered on account of one other mechanism?
Question Assignment eight: Based mostly on the findings from the mouse mannequin, researchers then developed an SCA1 mannequin in Drosophila – what are the benefits of utilizing a Drosophila mannequin over a mouse one
Question Assignment 9: Utilizing the Drosophila mannequin of SCA1, what was the protein kinase they discovered to be implicated in SCA1 related neurodegeneration and why is this data helpful with respect to treating the illness?
