Autism spectrum disorder: prospects for treatment using gene therapy.
Autism spectrum disorder: prospects for treatment using gene therapy.
复制标题
自闭症谱系障碍：基因治疗的前景。
DOI：
10.1186/s13229-018-0222-8
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发表时间：
2018
期刊：
影响因子：
6.2
通讯作者：
Mazarakis ND
中科院分区：
文献类型：
--
作者：
Benger M;Kinali M;Mazarakis ND
自闭症谱系障碍（ASD）的特征是同时出现社交互动受损、受限的、 perseverative（持续重复的，此处可能是perseverative behavior表述有误，应为repetitive behavior“重复性行为”）和刻板行为以及异常的沟通技能。近期的流行病学研究报告称，ASD的患病率急剧上升，每59名儿童中就有多达1人被诊断患有ASD。ASD似乎主要由基因驱动，且可能在出生后可逆，这一事实引发了将基因疗法用作疾病改良治疗的令人兴奋的可能性。此类疗法已经开始对人类疾病，特别是单基因疾病（例如异染性脑白质营养不良、1型脊髓性肌萎缩症）产生重大影响。就ASD而言，我们在动物模型构建能力以及向中枢神经系统（CNS）传递基因的能力方面的技术进步，导致了针对单基因ASD的首次临床前研究，涉及基因替换和基因沉默。此外，我们对ASD中常见的失调通路的认识和理解不断提高，拓宽了基因疗法的潜在范围，使其包括各种多基因ASD。正如本综述所强调的，尽管存在许多突出的挑战，但基因疗法在解决ASD认知功能障碍方面具有巨大的潜力。
Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have reported a dramatic increase in the prevalence of ASD with as many as 1 in every 59 children being diagnosed with ASD. The fact that ASD appears to be principally genetically driven, and may be reversible postnatally, has raised the exciting possibility of using gene therapy as a disease-modifying treatment. Such therapies have already started to seriously impact on human disease and particularly monogenic disorders (e.g. metachromatic leukodystrophy, SMA type 1). In regard to ASD, technical advances in both our capacity to model the disorder in animals and also our ability to deliver genes to the central nervous system (CNS) have led to the first preclinical studies in monogenic ASD, involving both gene replacement and silencing. Furthermore, our increasing awareness and understanding of common dysregulated pathways in ASD have broadened gene therapy’s potential scope to include various polygenic ASDs. As this review highlights, despite a number of outstanding challenges, gene therapy has excellent potential to address cognitive dysfunction in ASD.
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影响因子：
4.3
作者：
D'Mello AM;Stoodley CJ
通讯作者：
Stoodley CJ
影响因子：
10.1
作者：
Keesing, F
通讯作者：
Keesing, F
影响因子：
4.2
作者：
DMello, Anila M.;Crocetti, Deana;Mostofsky, Stewart H.;Stoodley, Catherine J.
通讯作者：
Stoodley, Catherine J.
影响因子：
4.2
作者：
Arsenault J;Gholizadeh S;Niibori Y;Pacey LK;Halder SK;Koxhioni E;Konno A;Hirai H;Hampson DR
通讯作者：
Hampson DR
影响因子：
17.1
作者：
Berry-Kravis, Elizabeth M.;Hessl, David;Hagerman, Randi J.
通讯作者：
Hagerman, Randi J.