geneticist finds a mutation that results in neurodegeneration phenotype in C. elegans, typical of neurodegenerative disease in humans. What would be the genetic approach the scientist may take to further her understanding of this neurodegenerative disease?
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- Person A and person B are both worried they are going to develop a neurodegenerative disease. Unfortunately, person A has more reason to be worried than person B. Of the neurodegenerative disorders below, pick one and come up with one possible reason why person A is more likely to develop this disorder than person B, and also come up with one possible reason why person B is more likely to be protected from the disorder. For full credit, you must concoct TWO separate genetic, environmental, or lifestyle reasons that will make person A more likely, and person B less likely to develop the disease you’ve selected: Parkinson’s Alzheimer’s disease Huntington’s Multiple SclerosisThere are nine known progressive neurodegenerative disorders that all share expanded numbers of the CAG codon, which inserts extra glutamine residues into the coding regions of specific genes. Genes carrying such mutations are typically gain-of-function mutations and often share a common mechanism of pathogenesis. Why would such genes be gain-of-function? Speculate on why such diseases may be caused by a common mechanism.Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…
- A region on chromosome 6 has been linked to schizophrenia, but researchers have not found a specific gene associated with this disease. What steps would be necessary to locate the gene?The essay should focus on the following discussion points: The normal functions of the p53 gene. Known mutations of the gene. The impact of mutations on the structure of the protein encoded by the gene. The impact of mutations on the function of the protein. Current therapeutic interventions that aim to address the impact of mutations on gene functionExplain the loss-of-function mutation ?
- Huntington disease (HD) is an inherited neurodegenerative disorder characterized by gradual, irreversible impairment of psychological, motor, and cognitive functions. Symptoms typically appear in middle age, but onset can occur at almost any age, and the course of the disease can range from 15 to 20 years. The molecular basis of HD is becoming better understood, and the genetic mutation has been traced to a gene that encodes a large protein of unknown function. In individuals who will not develop HD, a region of the gene that encodes the N-terminus of this protein has a sequence of CAG codons (for glutamine) repeated 6 to 39 times in succession. In individuals with adult-onset HD, this codon (3 nucleotides) is typically repeated 40 to 55 times In those with childhood-onset HD, it is repeated more than 70 times. *codon: refers to the 3 nucleotides that code for amino acid. A small portion of the coding sequence of the HD gene is given below. The nucleotide sequence of the DNA is…: The effects of DNA mutations within the p53 gene on the structure and function of the protein encoded by the gene. The essay should focus on the following discussion points: The normal functions of the p53 gene. Known mutations of the gene. The impact of mutations on the structure of the protein encoded by the gene. The impact of mutations on the function of the protein. Current therapeutic interventions that aim to address the impact of mutations on gene functionLi- Fraumeni Syndrome (LFS) is a rare hereditary cancer disease due to a mutation in the TP53 gene. Propose a treatment strategy for LFS.
- What is loss-of-function mutation ?The homeotic mutation Antennapedia causes mutant Drosophila to have legs in place of antennae and is a dominant gain-of-function mutation. List all the properties of such mutations. How does the Antennapedia gene change antennae into legs?Is Alzheimer’s disease always linked to a mutation in a single gene? Provide evidence that supports this claim.
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