SNCA基因甲基化在帕金森病和多系统萎缩中的作用

IF 2.5 Q3 GENETICS & HEREDITY Epigenomes Pub Date : 2023-02-06 DOI:10.3390/epigenomes7010005
Ekaterina Yu Fedotova, Elena V Iakovenko, Natalia Yu Abramycheva, Sergey N Illarioshkin
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引用次数: 1

摘要

近年来,表观遗传机制已涉及多因素疾病的发展,包括神经退行性疾病。在帕金森病(PD)中,作为一种突触核蛋白病,大多数研究都集中在编码α -突触核蛋白的SNCA基因的DNA甲基化上,但得到的结果却相当矛盾。在另一种神经退行性突触核蛋白病,多系统萎缩(MSA)中,很少有研究研究表观遗传调控。本研究包括PD患者(n = 82)、MSA患者(n = 24)和对照组(n = 50)。在三组中,分析SNCA基因调控区域CpG和非CpG位点的甲基化水平。我们发现PD中SNCA内含子1中CpG位点的低甲基化和MSA中SNCA启动子区域主要非CpG位点的高甲基化。在PD患者中,内含子1的低甲基化与疾病发病年龄较早有关。在MSA患者中,启动子的高甲基化与较短的疾病持续时间(检查前)相关。这些结果表明pd和MSA两种突触核蛋白病的表观遗传调控模式不同。
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SNCA Gene Methylation in Parkinson's Disease and Multiple System Atrophy.

In recent years, epigenetic mechanisms have been implicated in the development of multifactorial diseases including neurodegenerative disorders. In Parkinson's disease (PD), as a synucleinopathy, most studies focused on DNA methylation of SNCA gene coding alpha-synuclein but obtained results were rather contradictory. In another neurodegenerative synucleinopathy, multiple system atrophy (MSA), very few studies investigated the epigenetic regulation. This study included patients with PD (n = 82), patients with MSA (n = 24), and a control group (n = 50). In three groups, methylation levels of CpG and non-CpG sites in regulatory regions of the SNCA gene were analyzed. We revealed hypomethylation of CpG sites in the SNCA intron 1 in PD and hypermethylation of predominantly non-CpG sites in the SNCA promoter region in MSA. In PD patients, hypomethylation in the intron 1 was associated with earlier age at the disease onset. In MSA patients, hypermethylation in the promotor was associated with shorter disease duration (before examination). These results showed different patterns of the epigenetic regulation in two synucleinopathies-PD and MSA.

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来源期刊
Epigenomes
Epigenomes GENETICS & HEREDITY-
CiteScore
3.80
自引率
0.00%
发文量
38
审稿时长
11 weeks
期刊最新文献
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