biostudies-literatureUnknown15Gu JNational Institute of Neurological Disorders and StrokeParkinson's disease (PD) and dementia with Lewy body (DLB) are the most common synucleinopathies. <i>SNCA</i> gene is a major genetic risk factor for these diseases group, and dysregulation of its expression has been implicated in the genetic etiologies of several synucleinopathies. DNA methylation at CpG island (CGI) within <i>SNCA</i> intron 1 has been suggested as a regulatory mechanism of <i>SNCA</i> expression, and changes in methylation levels at this region were associated with PD and DLB. However, the role of DNA methylation in the regulation of <i>SNCA</i> expression in a cell-type specific manner and its contribution to the pathogenesis of PD and DLB remain poorly understood, and the data are conflicting. Here, we employed a bisulfite pyrosequencing technique to profile the DNA mFrontiers in neuroscience652226https://www.ebi.ac.uk/biostudies/studies/S-EPMC8113398biostudies-literatureCell-Type Specific Changes in DNA Methylation of <i>SNCA</i> Intron 1 in Synucleinopathy Brains.PMC8113398Kantor BChiba-Falek OMurphy SKBarrera JYun YGu JBeach TGWoltjer RLSerrano GEfalseCell-Type Specific Changes in DNA Methylation of <i>SNCA</i> Intron 1 in Synucleinopathy Brains.Parkinson's disease (PD) and dementia with Lewy body (DLB) are the most common synucleinopathies. <i>SNCA</i> gene is a major genetic risk factor for these diseases group, and dysregulation of its expression has been implicated in the genetic etiologies of several synucleinopathies. DNA methylation at CpG island (CGI) within <i>SNCA</i> intron 1 has been suggested as a regulatory mechanism of <i>SNCA</i> expression, and changes in methylation levels at this region were associated with PD and DLB. However, the role of DNA methylation in the regulation of <i>SNCA</i> expression in a cell-type specific manner and its contribution to the pathogenesis of PD and DLB remain poorly understood, and the data are conflicting. Here, we employed a bisulfite pyrosequencing technique to profile the DNA m2021-01-01T00:00:00Z20212025-04-19T16:17:28.335Z2025-04-19T16:17:28.335ZS-EPMC81133983399492810.3389/fnins.2021.652226