1. What is the species name of the model/study organism? If the study is looking at human disease choose the disease causing organism. If the study is on some aspect of human physiology or anatomy, the model organism is a human.
The study followed one White family and one Italian family to see how the mutation of a Manganese Transporter, SLC30A10, causes a variety of diseases such as Parkinson’s and Chronic Liver Disease. The model organism of the study is the Homo sapien.
2. Intellectual merit and broader impact: A) What did the authors feel this research was important enough to spend time and money doing it B) Is there an economic, environmental, medical, health, or a combination of reasons that makes this research valuable? -I feel that …show more content…
Sampling for the study: A. Where did they sample? For the study men from both Italy and Holland had their Genomic DNA sampled. Samples of tissue for the immunohistochemistry experiment were taken from a brain bank and a Depart of Pathology at a school in the Netherlands. B. How did they sample? Fancy systems that are used for genotyping were used to analyze the DNA. Homozygosity which is having identical alleles in a single chromosome was another factor of the DNA that was analyzed (In Encyclopedia Britannica Academic online). Exome sequencing was used to organize the parts of DNA. An Exome is the coding part of DNA which would be a nightmare to look at if cluttered (“Exome,” 2017). Lastly the Exons of the mutated SLC30A10 were compared to the exons of healthy SLC30A10. C. Number of Samples taken? Unclear the number of samples taken, but there were five men who participated in the study and four follow ups on their condition. The number of tissue samples for the other experiments was also not clear in the …show more content…
Before the study, it was a bit fuzzy as to whether not SL30A10 was a transporter or not, but now the results from staining test make it know that it is in fact a transporter of Manganese. The fact that it is a transporter also explains why it is in so many different tissue types. The surprising discovery to the researchers was the fact that SL30A10 was in incredibly small amounts where there was supposed to be an abundance of it. This supports the hypothesis in saying that the SL30A10 is mutated. It was also surprising for the researchers to find zinc more prevalent in the tissues where Manganese was supposed to be. This further supports the hypothesis because of the differences between the healthy tissue and unhealthy tissue. Because of the abnormal amounts of manganese caused by SL30A10 in the nervous system and liver it proves that this mutation plays a huge role in the causation of Parkinson’s and Liver Disease. Overall the Researchers have enough to approve of their hypothesis just with the immunohistochemistry study
The study followed one White family and one Italian family to see how the mutation of a Manganese Transporter, SLC30A10, causes a variety of diseases such as Parkinson’s and Chronic Liver Disease. The model organism of the study is the Homo sapien.
2. Intellectual merit and broader impact: A) What did the authors feel this research was important enough to spend time and money doing it B) Is there an economic, environmental, medical, health, or a combination of reasons that makes this research valuable? -I feel that …show more content…
Sampling for the study: A. Where did they sample? For the study men from both Italy and Holland had their Genomic DNA sampled. Samples of tissue for the immunohistochemistry experiment were taken from a brain bank and a Depart of Pathology at a school in the Netherlands. B. How did they sample? Fancy systems that are used for genotyping were used to analyze the DNA. Homozygosity which is having identical alleles in a single chromosome was another factor of the DNA that was analyzed (In Encyclopedia Britannica Academic online). Exome sequencing was used to organize the parts of DNA. An Exome is the coding part of DNA which would be a nightmare to look at if cluttered (“Exome,” 2017). Lastly the Exons of the mutated SLC30A10 were compared to the exons of healthy SLC30A10. C. Number of Samples taken? Unclear the number of samples taken, but there were five men who participated in the study and four follow ups on their condition. The number of tissue samples for the other experiments was also not clear in the …show more content…
Before the study, it was a bit fuzzy as to whether not SL30A10 was a transporter or not, but now the results from staining test make it know that it is in fact a transporter of Manganese. The fact that it is a transporter also explains why it is in so many different tissue types. The surprising discovery to the researchers was the fact that SL30A10 was in incredibly small amounts where there was supposed to be an abundance of it. This supports the hypothesis in saying that the SL30A10 is mutated. It was also surprising for the researchers to find zinc more prevalent in the tissues where Manganese was supposed to be. This further supports the hypothesis because of the differences between the healthy tissue and unhealthy tissue. Because of the abnormal amounts of manganese caused by SL30A10 in the nervous system and liver it proves that this mutation plays a huge role in the causation of Parkinson’s and Liver Disease. Overall the Researchers have enough to approve of their hypothesis just with the immunohistochemistry study