Unit 7 Written Assignment
Question 1: Based on this video, describe the symptoms of the SCA1 disease.
The symptoms I understood includes;
1. Balance and coordination problems
2. Swallowing- choking on their food, which leads to death
3. Difficulty with breathing, breathing disordered
4. Secondary infection
5. Having speech difficulties
SCA1 is a familial disease as indicated by the pedigree analysis chart shown on the video and in the image below
Question 2: Explain how to read the chart by indicating what the squares and circles represent and Filled shapes: Represent affected person with CAG repeat Hollow shapes: Represent people that are at risk
Squares: represent normal
Squares: represents normal, unaffected individual
Question 3: Discuss …show more content…
This disease is a progressive dominance
Are the affected individuals more likely to be heterozygous or homozygous for this mutation? The affected individual are more likely to be homozygous
Is the disease affecting equally men and women? This disease affect both men and women. It can be transfer from men to men, female-to-female, female to man. For each conclusion, make sure to explain how it is supported by the pedigree.
The Online Mendelian Inheritance in Man (OMIM) database http://www.omim.org/about is a frequently updated database of human genes and genetic diseases. Search for SCA1 on OMIM. Read quickly through the page to get a general idea of the types of information that can be found on it and how they are presented. Identify the gene whose mutation is responsible for the SCA1 disease, search for it on OMIM and have a quick look at the corresponding page.
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 …show more content…
Is this consistent with the symptoms observed in SCA1 patients?
Purkinje cell are primarily affected
“This is consistent with the symptoms because what the Purkinje cell does is send the information, via another neuron back to the cerebral cortex so that your movement is nicely coordinated. So if these purkinje cell are affected, above symptoms will be observed,” (Zoghbi, 2003, p.6).
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 website https://www.jax.org/research-in-action/why-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 video describe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?
In the video, the SCA 1 mouse was unable to balance on the rolling rod. While non SCA 1 mouse balanced on the rod effectively, the SCA 1 mouse kept on staggering until finally fell down. This lack of balance is similar to symptoms observed in SCA 1 patients. One of the symptoms of SCA 1 is balance and coordination
Question 1: Based on this video, describe the symptoms of the SCA1 disease.
The symptoms I understood includes;
1. Balance and coordination problems
2. Swallowing- choking on their food, which leads to death
3. Difficulty with breathing, breathing disordered
4. Secondary infection
5. Having speech difficulties
SCA1 is a familial disease as indicated by the pedigree analysis chart shown on the video and in the image below
Question 2: Explain how to read the chart by indicating what the squares and circles represent and Filled shapes: Represent affected person with CAG repeat Hollow shapes: Represent people that are at risk
Squares: represent normal
Squares: represents normal, unaffected individual
Question 3: Discuss …show more content…
This disease is a progressive dominance
Are the affected individuals more likely to be heterozygous or homozygous for this mutation? The affected individual are more likely to be homozygous
Is the disease affecting equally men and women? This disease affect both men and women. It can be transfer from men to men, female-to-female, female to man. For each conclusion, make sure to explain how it is supported by the pedigree.
The Online Mendelian Inheritance in Man (OMIM) database http://www.omim.org/about is a frequently updated database of human genes and genetic diseases. Search for SCA1 on OMIM. Read quickly through the page to get a general idea of the types of information that can be found on it and how they are presented. Identify the gene whose mutation is responsible for the SCA1 disease, search for it on OMIM and have a quick look at the corresponding page.
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 …show more content…
Is this consistent with the symptoms observed in SCA1 patients?
Purkinje cell are primarily affected
“This is consistent with the symptoms because what the Purkinje cell does is send the information, via another neuron back to the cerebral cortex so that your movement is nicely coordinated. So if these purkinje cell are affected, above symptoms will be observed,” (Zoghbi, 2003, p.6).
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 website https://www.jax.org/research-in-action/why-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 video describe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?
In the video, the SCA 1 mouse was unable to balance on the rolling rod. While non SCA 1 mouse balanced on the rod effectively, the SCA 1 mouse kept on staggering until finally fell down. This lack of balance is similar to symptoms observed in SCA 1 patients. One of the symptoms of SCA 1 is balance and coordination