{"title":"CRISPR-CAS9作为亨廷顿舞蹈病IT-15基因编辑的工具","authors":"L. A. D. Godoy, F. Bomfim","doi":"10.21876/rcshci.v10i4.1016","DOIUrl":null,"url":null,"abstract":"Huntington's disease (HD) is a neurodegenerative, autosomal dominant and hereditary disease that occurs due to a genetic mutation that generates a repetitive sequence of CAG trinucleotides present in the IT-15 gene, huntingtin gene, located on chromosome 4. The objective was to review Huntington's disease (HD) neuropathology and the CRISPR-Cas9 method to silence the IT-15 gene and thus verify the consequence in the HIP14 and HAP1 genes, which have interaction with the mutated huntingtin and the result of this in the patient's organism. Articles were searched in indexed databases (Scielo, PubMed and LILACs) with the following descriptors: ((Huntington) OR (Huntingtin Protein)) AND (gene editing). The online tool GeneMania, open access, was also used to analyze probabilities and gene interactions. The silencing of the IT-15 gene causes changes in proteins that interact with the mutated Huntingtin, leading to disturbances in several processes.","PeriodicalId":12868,"journal":{"name":"Health science journal","volume":"49 1","pages":"10-15"},"PeriodicalIF":0.0000,"publicationDate":"2020-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"CRISPR-CAS9 como ferramenta para edição do gene IT-15 na Doença de Huntington\",\"authors\":\"L. A. D. Godoy, F. Bomfim\",\"doi\":\"10.21876/rcshci.v10i4.1016\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Huntington's disease (HD) is a neurodegenerative, autosomal dominant and hereditary disease that occurs due to a genetic mutation that generates a repetitive sequence of CAG trinucleotides present in the IT-15 gene, huntingtin gene, located on chromosome 4. The objective was to review Huntington's disease (HD) neuropathology and the CRISPR-Cas9 method to silence the IT-15 gene and thus verify the consequence in the HIP14 and HAP1 genes, which have interaction with the mutated huntingtin and the result of this in the patient's organism. Articles were searched in indexed databases (Scielo, PubMed and LILACs) with the following descriptors: ((Huntington) OR (Huntingtin Protein)) AND (gene editing). The online tool GeneMania, open access, was also used to analyze probabilities and gene interactions. The silencing of the IT-15 gene causes changes in proteins that interact with the mutated Huntingtin, leading to disturbances in several processes.\",\"PeriodicalId\":12868,\"journal\":{\"name\":\"Health science journal\",\"volume\":\"49 1\",\"pages\":\"10-15\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-12-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Health science journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21876/rcshci.v10i4.1016\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Health science journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21876/rcshci.v10i4.1016","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
CRISPR-CAS9 como ferramenta para edição do gene IT-15 na Doença de Huntington
Huntington's disease (HD) is a neurodegenerative, autosomal dominant and hereditary disease that occurs due to a genetic mutation that generates a repetitive sequence of CAG trinucleotides present in the IT-15 gene, huntingtin gene, located on chromosome 4. The objective was to review Huntington's disease (HD) neuropathology and the CRISPR-Cas9 method to silence the IT-15 gene and thus verify the consequence in the HIP14 and HAP1 genes, which have interaction with the mutated huntingtin and the result of this in the patient's organism. Articles were searched in indexed databases (Scielo, PubMed and LILACs) with the following descriptors: ((Huntington) OR (Huntingtin Protein)) AND (gene editing). The online tool GeneMania, open access, was also used to analyze probabilities and gene interactions. The silencing of the IT-15 gene causes changes in proteins that interact with the mutated Huntingtin, leading to disturbances in several processes.