Parkinson's disease (PD) is a complex neurodegenerative disease with a strong genetic component. To date, several genes have been associated with monogenic forms of the disease, but these only explain a small fraction of the observed familial aggregation in PD. Recently, a heterozygous loss-of-function variant in LIN28A was associated with PD pathogenesis in the Asian population. Here, we comprehensively investigate the role of LIN28A variants in PD patients of European ancestry and assess susceptibility using individual-level genotyping data from 14,671 PD cases and 17,667 controls, as well as whole-genome sequencing data from 1647 patients with PD and 1050 controls. In addition, we further assess the summary statistics from the most recent genome-wide association studies meta-analyses to date for PD risk and age at onset. After evaluating these data, we did not find evidence to support a role for LIN28A as a major causal gene for PD. However, additional large-scale familial and case-control studies in non-European ancestry populations are necessary to further evaluate the role of LIN28A in PD etiology.
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http://dx.doi.org/10.1016/j.neurobiolaging.2020.12.002 | DOI Listing |
Cells
November 2024
Institute for Anatomy and Cell Biology, Medical Faculty, University of Heidelberg, Im Neuenheimer Feld 307, 69120 Heidelberg, Germany.
Spermatogonial stem cells (SSCs) sustain and modulate spermatogenesis through intricate signaling pathways and transcription factors. Promyelocytic leukemia zinc-finger (, also known as ) has been identified as a critical transcription factor influencing various signaling and differentiation pathways. plays a pivotal role in regulating the differentiation properties of SSCs and is essential for the proper maintenance of spermatogenesis.
View Article and Find Full Text PDFNaunyn Schmiedebergs Arch Pharmacol
December 2024
Department of Structural Heart Disease, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, P.R. China.
20-hydroxyecdysone (20E), a natural polyhydroxylated steroid, has exhibited anti-inflammatory effects across various diseases. This study investigates the potential connection between 20E's anti-inflammatory properties and the RNA-binding protein Lin28b, which is notably upregulated in TNF-α-stimulated endothelial cells. Herein, we discovered that 20E can selectively downregulate Lin28b expression without affecting its paralog Lin28a.
View Article and Find Full Text PDFSci Rep
November 2024
Department of Pharmacology, Xi'an Jiaotong University Health Science Center, No. 76 Yanta West Road, Xi'an, 710061, Shaanxi, People's Republic of China.
Background And Purpose: Catalpol (CAT) has diverse pharmacological functions, including cellular homeostasis maintenance and anti-inflammatory effects. Sirtuin 5 (SIRT5) plays a considerable role in regulating cellular homeostasis in cardiac diseases. Our research explores the therapeutic potential of CAT against myocardial injury and its underlying mechanism.
View Article and Find Full Text PDFPhysiol Res
November 2024
Blood Purification Center, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Xiuying District, Haikou, Hainan Province, China.
Infiltrated and activated M1 macrophages play a role in kidney injury and fibrosis during chronic kidney disease (CKD) progression. However, the specific ways that M1 macrophage polarization contributes to renal fibrosis are not fully understood. The study seeks to investigate how miR-92a-3p regulates M1 macrophage polarization and its connection to renal fibrosis in the development of CKD.
View Article and Find Full Text PDFJ Cardiovasc Pharmacol
November 2024
Department of Anaesthesiology, the Second Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China.
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