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帕金森病的基因与基因治疗综述

A Review of Genetic and Gene Therapy for Parkinson's Disease.

作者信息

Dumbhare Omkar, Gaurkar Sagar S

机构信息

Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Otolaryngology - Head and Neck Surgery and Surgical Oncology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

出版信息

Cureus. 2023 Feb 5;15(2):e34657. doi: 10.7759/cureus.34657. eCollection 2023 Feb.

Abstract

Parkinson's disease (PD) is a syndrome with deterioration of neurons, with its onset starting in the '20s, known as the young beginning of Parkinson's to the late inception of the ailment in the 60s. The majority of the environmental risk associated with PD is age. The pathophysiology of PD is related to the accretion of synuclein alpha (SNCA) protein leading to toxicity. This toxicity further leads to a depletion in dopamine levels, creating both motor and non-motor symptoms. PD is the combination of genetic and environmental risk factors. Linkage and association studies provided data on autosomal dominant and recessive genes linked to PD. Current treatment regimes involve using levodopa, catechol-O-methyl transferase inhibitors, anticholinergics, and monoamine oxidase B (MAO-B) inhibitors. Genetic treatment is done by identifying possible targets. Gene therapy includes silencing, replacing, or correcting the flawed gene with a good gene. This therapy has the advantage of eliminating significant PD symptoms with fewer to no adverse effects than conventional treatment. These targets are organized into disease-modifying or non-disease modifying. The distinction between these two is that disease-modifying treatment stops the degeneration of neurons, while non-disease modifying treatment involves dopaminergic enzyme expression. In non-modifying targets, aromatic L-amino acid decarboxylase (AADC) therapy is used but not as a standalone, so the presentation of AADC, tyrosine hydroxylase (TH), and GTP cyclohydrolase 1 (GCH) is done together as a tricistronic system. With these developments, a drug named prosavin is under clinical phase 1 trial. Disease-modifying targets involve glial cell-derived neurotrophic factor (GDNF). Direct GDNF delivery reduces PD symptoms. This GDNF infusion technique works with a tetracycline-controlled transactivator. Gene therapy introduction into the treatment of PD would be beneficial as there would be lesser adverse effects seen as linked with conventional treatment involving levodopa, MAO-B inhibitors, and anticholinergics, among a few. This article discusses the genetic basis and genetic model of therapy for PD.

摘要

帕金森病(PD)是一种神经元退化的综合征,其发病始于20多岁,这被称为帕金森病的早发型,而到60多岁则是该病的晚发型。与帕金森病相关的大多数环境风险因素是年龄。帕金森病的病理生理学与α-突触核蛋白(SNCA)的积累有关,这会导致毒性。这种毒性进一步导致多巴胺水平下降,从而产生运动和非运动症状。帕金森病是遗传和环境风险因素共同作用的结果。连锁和关联研究提供了与帕金森病相关的常染色体显性和隐性基因的数据。目前的治疗方案包括使用左旋多巴、儿茶酚-O-甲基转移酶抑制剂、抗胆碱能药物和单胺氧化酶B(MAO-B)抑制剂。基因治疗是通过确定可能的靶点来进行的。基因治疗包括使有缺陷的基因沉默、替换或用正常基因进行校正。这种治疗方法的优点是与传统治疗相比,能消除明显的帕金森病症状,且副作用较少或没有副作用。这些靶点分为疾病修饰性或非疾病修饰性。这两者的区别在于,疾病修饰性治疗可阻止神经元退化,而非疾病修饰性治疗涉及多巴胺能酶的表达。在非修饰性靶点中,会使用芳香族L-氨基酸脱羧酶(AADC)疗法,但不是单独使用,因此AADC、酪氨酸羟化酶(TH)和GTP环化水解酶1(GCH)会作为一个三顺反子系统一起呈现。随着这些进展,一种名为prosavin的药物正在进行1期临床试验。疾病修饰性靶点涉及胶质细胞源性神经营养因子(GDNF)。直接递送GDNF可减轻帕金森病症状。这种GDNF输注技术与四环素控制的反式激活因子配合使用。将基因治疗引入帕金森病的治疗将是有益的,因为与涉及左旋多巴、MAO-B抑制剂和抗胆碱能药物等的传统治疗相比,副作用会更少。本文讨论了帕金森病治疗的遗传基础和遗传模型。

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