亨廷顿舞蹈病的最新研究进展(综述)。

IF 2.3 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Biomedical reports Pub Date : 2023-01-01 DOI:10.3892/br.2022.1587
Anastasia Marina Palaiogeorgou, Eleni Papakonstantinou, Rebecca Golfinopoulou, Markezina Sigala, Thanasis Mitsis, Louis Papageorgiou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Demetrios A Spandidos, Flora Bacopoulou, George P Chrousos, Elias Eliopoulos, Dimitrios Vlachakis
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引用次数: 4

摘要

亨廷顿氏病(HD)是一种以严重的运动、认知和精神症状为特征的神经退行性疾病。所有年龄段的患者都可能出现神经系统功能障碍,从而导致运动控制的逐渐丧失,以及语言、吞咽、交流等方面的残疾。这种疾病的分子基础是众所周知的,因为HD与一种突变基因有关,一种编码亨廷顿蛋白的三核苷酸扩增。这种蛋白质与神经发生有关,其功能的丧失会导致神经退行性疾病。虽然这种疾病的遗传原因已经知道了几十年,但还没有有效的治疗方法来预防发病或消除症状的进展。因此,本综述的重点是开发新的方法来及时准确地诊断HD,目的是帮助开发可以减轻症状严重程度和控制其进展的治疗方法。大多数治疗方法包括突变的亨廷顿基因的基因沉默机制,旨在抑制其表达,以及使用各种物质作为药物,结果非常有希望。在本综述中,讨论了HD的最新诊断方法,以及遗传咨询的必要性和应用治疗的最新介绍。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Recent approaches on Huntington's disease (Review).

Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.

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来源期刊
Biomedical reports
Biomedical reports MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
4.10
自引率
0.00%
发文量
86
期刊介绍: Biomedical Reports is a monthly, peer-reviewed journal, dedicated to publishing research across all fields of biology and medicine, including pharmacology, pathology, gene therapy, genetics, microbiology, neurosciences, infectious diseases, molecular cardiology and molecular surgery. The journal provides a home for original research, case reports and review articles.
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