摘要
粘多糖贮积症II型或Hunter综合征是由溶酶体酶IururnAT-2-硫酸酯酶基因突变引起的X连锁溶酶体贮积病。随之产生的酶恶性导致糖胺聚糖进行性多系统积聚,这也是重症患者中枢神经系统临床表现的原因。疾病。目前对亨特综合征、造血干细胞移植和重组酶替代疗法的限制,主要是在脑成就方面。鼓励了一些研究认为基因治疗是一种潜在的治疗选择。体外研究首次以病毒载体介导的Id为例S基因的表达可导致转导细胞的酶活性升高。所取得的令人鼓舞的成果,使许多临床前研究得以实现。F基因治疗载体在动物模型的粘多糖病II,连同一期临床试验批准亨特患者受轻度形式的疾病。到体内重组载体直接、系统地或直接注射到中枢神经系统的微管,以及体内外基因治疗,包括自体移植。造血干细胞,在体外改造,进入动物或病人,已经过测试。目前所取得的结果在临床上得到了更广泛的应用,这对于确保基因治疗是必要的。这一罕见但危及生命的疾病,已被证实为一种有效的治疗方案。
关键词: 载体,逆转录病毒,腺病毒,基因,酶,中枢神经系统。
Current Gene Therapy
Title:Genetics and Gene Therapy in Hunter Disease
Volume: 18 Issue: 2
关键词: 载体,逆转录病毒,腺病毒,基因,酶,中枢神经系统。
摘要: Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency causes a progressive, multisystem accumulation of glycosaminoglycans, which is the cause of the clinical manifestations involving also Central Nervous System for patients with the severe form of disease. The limits of the currently available therapies for Hunter syndrome, hematopoietic stem cell transplantation and recombinant enzyme replacement therapy, mainly regarding brain achievement, have encouraged several studies which recognized gene therapy as a potential therapeutic option for this condition. In vitro studies firstly aimed at the demonstration that viral vector- mediated IDS gene expression could lead to high levels of enzyme activity in transduced cells. The encouraging results obtained allowed the realization of many preclinical studies investigating the utilization of gene therapy vectors in animal models of Mucopolysaccharidosis II, together with a phase I clinical trial approved for Hunter patients affected by the mild form of the disease. Together to in vivo studies in which recombinant vectors are directly administered, systematically or by direct injection into Central Nervous System, also ex vivo gene therapy, consisting in transplantation of autologous hematopoietic stem cells, modified in vitro, into the animal or patient, has been tested. A wider clinical application of the results obtained so far is essential to ensure that gene therapy can be definitively validated as a therapeutic option available and usable for this rare but life-threatening disorder.
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Genetics and Gene Therapy in Hunter Disease, Current Gene Therapy 2018; 18 (2) . https://dx.doi.org/10.2174/1566523218666180404155759
DOI https://dx.doi.org/10.2174/1566523218666180404155759 |
Print ISSN 1566-5232 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5631 |
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