Am not sure if I am on the right track. preth confused in all three questions.

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10 The Nature of the Gene and the Genome CASE STUDY: Models for Human Genetic Disease The trinucleotide repeat disorders are

ataxin 1 in flies. What do these results suggest about the molecular mechanisms by which expanded CAG on htt and ataxin 1 act

am not sure if I am on the right track. preth confused in all three questions.

10 The Nature of the Gene and the Genome CASE STUDY: Models for Human Genetic Disease The trinucleotide repeat disorders are a series of genetic diseases that are characterized by an expansion of trinucleotides within the coding sequence of the gene. One favored model is that the expanded trinucleotides then encode for a long stretch of a particular amino acid, which results in protein aggregation leading to neurological dysfunction. Huntington's Disease (HD) is a neurological disease that is caused by a mutation in the huntingtin gene. It is an autosomal dominant disease, meaning that if a person has one mutant copy of the disease allele, they will develop the disease. HD arises from a CAG repeat at the 5' end of the gene, in which CAG codes for Gin. In the mutant gene, the repeat is highly expanded (35 or more copies in the mutant relative to less than 27 copies in normal patients), and therefore there is a stretch of GIn residues at the N-terminus of the protein. The Gln residues are somewhat sticky to each other and to other prote which leads to aggregation of the protein, precipitous aggregates, and ultimately cellular degenerati Major symptoms are those of neuro neurodegeneration degeneration from defective deposits in brain cells. In HD, this also manifests itself in involuntary jerky movements and dementia. Spinocerebellar Ataxia type 1 (SCA1) is another neuorological diseases that is caused by an expanded CAG repeat in the ataxin 1 gene. Like HD is autosomal dominant with average age of onset in the late 30s. One difficulty in studying any human disease is to develop good model systems to probe the molecular pathways of the defect and to begin to identify potential drug targets for treatment of the disease. Drosophila melanogaster is an excellent model system for the study of neuronal function. The nervous system of the fly is quite simplified relative to humans and yet many biomedically important proteins, such as the huntingtin protein are conserved in flies, suggesting that these proteins likely play a universal role in neuronal function. An additional advantage of flies is that it is possible to carry out genetic screens in which scientists can look for enhancers or suppressors of gene function to identify other molecular components that function in a given pathway. To generate a model of HD and SCA1, scientists drove the expression of an expanded CAG repeat of either the htt gene or the ataxin gene in Drosophila and then examined the consequences on overexpression or downregulation of a number of other genes. Below are a series of questions that deal with these studies. Questions: The researchers found that overexpression or inhibition of a number of modifier genes in flies caused the reduction in symptoms caused by overexpression of the CAG repeat of either htt or 1.

10 The Nature of the Gene and the Genome CASE STUDY: Models for Human Genetic Disease The trinucleotide repeat disorders are a series of genetic diseases that are characterized by an expansion of trinucleotides within the coding sequence of the gene. One favored model is that the expanded trinucleotides then encode for a long stretch of a particular amino acid, which results in protein aggregation leading to neurological dysfunction. Huntington's Disease (HD) is a neurological disease that is caused by a mutation in the huntingtin gene. It is an autosomal dominant disease, meaning that if a person has one mutant copy of the disease allele, they will develop the disease. HD arises from a CAG repeat at the 5' end of the gene, in which CAG codes for Gin. In the mutant gene, the repeat is highly expanded (35 or more copies in the mutant relative to less than 27 copies in normal patients), and therefore there is a stretch of GIn residues at the N-terminus of the protein. The Gln residues are somewhat sticky to each other and to other prote which leads to aggregation of the protein, precipitous aggregates, and ultimately cellular degenerati Major symptoms are those of neuro neurodegeneration degeneration from defective deposits in brain cells. In HD, this also manifests itself in involuntary jerky movements and dementia. Spinocerebellar Ataxia type 1 (SCA1) is another neuorological diseases that is caused by an expanded CAG repeat in the ataxin 1 gene. Like HD is autosomal dominant with average age of onset in the late 30s. One difficulty in studying any human disease is to develop good model systems to probe the molecular pathways of the defect and to begin to identify potential drug targets for treatment of the disease. Drosophila melanogaster is an excellent model system for the study of neuronal function. The nervous system of the fly is quite simplified relative to humans and yet many biomedically important proteins, such as the huntingtin protein are conserved in flies, suggesting that these proteins likely play a universal role in neuronal function. An additional advantage of flies is that it is possible to carry out genetic screens in which scientists can look for enhancers or suppressors of gene function to identify other molecular components that function in a given pathway. To generate a model of HD and SCA1, scientists drove the expression of an expanded CAG repeat of either the htt gene or the ataxin gene in Drosophila and then examined the consequences on overexpression or downregulation of a number of other genes. Below are a series of questions that deal with these studies. Questions: The researchers found that overexpression or inhibition of a number of modifier genes in flies caused the reduction in symptoms caused by overexpression of the CAG repeat of either htt or 1.
ataxin 1 in flies. What do these results suggest about the molecular mechanisms by which expanded CAG on htt and ataxin 1 act? 2. The researchers also found that overexpression or inhibition of a number of modifier genes in flies caused opposite effects on the either htt or ataxin 1 in flies, meaning that overexpressi by overexpression of the CAG repeat of ion of some modifier genes enhanced the er genes suppressed the effects of the CAG repeat of ataxin 1. What do these results suggest about the molecular mechanisms by which expanded CAG on htt and ataxin 1 act? 3. When combined together, what do the apparent contradictory results stated in questions 1 and 2 suggest toward our understanding of potential targets for therapy? Where can I learn more? Imarisio, S., et al, Huntington's disease: from pathology and genetics to potential therapies. The Biochemical journal, 2008. 412: p. 191-209. Branco, J, et al, Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases. Human molecular genetics, 2008. 17: p. 376-390. Shao, J. and M.I. Diamond, Polyglutamine diseases: emerging concepts in pathogenesis and therapy. Human molecular genetics, 2007. 16 Spec No. 2: p. R115-123.

 · Answer

1) These results suggest that the modifier genes are interlinked with the expression of symptoms of trinucleotide genetic disorders like Huntington's and Spinocerebellar Ataxia Type 1. A mutation in these modifier genes might be responsible for the overexpression of CAG Repeat on htt or ataxin 1, which in turn might result in the mentioned neurological disorders.

2) As the overexpression or inhibition of certain modifier genes worsened the symptoms of the overexpression of CAG repeat on htt or ataxin 1, it can be said that CAG repeat can be regulated through a genetic influence and the protein aggregation is resultant of a genetic mechanism that failed in the optimal genetic regulation of the trinucleotide repeat sequences.

3) When combined together, the contradictory results of both experiments suggest that overexpression of CAG Repeat on htt or ataxin 1 can be genetically regulated, through reduction or overexpression of certain modifier genes. This indicates that there is a certain genetic mechanism that is disrupted with the occurrence of a disease like Huntington's or Spinocerebellar Ataxia Type 1(SCA1)

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Am not sure if I am on the right track. preth confused in all three questions.

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