CRISPR-CAS9作为亨廷顿舞蹈病IT-15基因编辑的工具

L. A. D. Godoy, F. Bomfim
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引用次数: 0

摘要

亨廷顿氏病(HD)是一种神经退行性、常染色体显性和遗传性疾病,其发生是由于基因突变产生位于4号染色体上的IT-15基因(亨廷顿蛋白基因)中CAG三核苷酸的重复序列。目的是回顾亨廷顿病(HD)的神经病理学和CRISPR-Cas9方法来沉默IT-15基因,从而验证HIP14和HAP1基因的后果,这些基因与突变的亨廷顿蛋白相互作用,以及患者机体中的结果。文章在索引数据库(Scielo, PubMed和LILACs)中检索,描述语如下:(亨廷顿)或(亨廷顿蛋白))和(基因编辑)。开放获取的在线工具GeneMania也被用于分析概率和基因相互作用。IT-15基因的沉默导致与突变的亨廷顿蛋白相互作用的蛋白质发生变化,导致几个过程受到干扰。
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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.
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PENCEGAHAN JATUH PADA BAYI KEJANG DEMAM DENGAN MASALAH KEPERAWATAN RISIKO JATUH DI RSU MUHAMMADIYAH PONOROGO STUDI KASUS : ASUHAN KEPERAWATAN PADA LANSIA DENGAN MASALAH KEPERAWATAN GANGGUAN DISTRESS SPIRITUAL DI UPT PANTI SOSIAL TRESNA WERDHA MAGETAN PENGARUH PERAWATAN PAYUDARA TERHADAP PENGELUARAN ASI PADA IBU POST PARTUM DI PMB NY. LILIS SULISTYOWATI, SST, KARANGAN, BALONG, PONOROGO LITERATURE REVIEW: EFEKTIVITAS SENAM LANSIA (TAI CHI) DALAM PENURUNAN TEKANAN DARAH PADA LANSIA DENGAN HIPERTENSI ASUHAN KEBIDANAN PADA BAYI DENGAN LABIOSCHISIS DI PMB MASFUFAH, S.Tr.Keb. PONOROGO
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