Are Ischemic Stroke and Alzheimer’s Disease Genetically Consecutive Pathologies? DOI Creative Commons
Ivan B. Filippenkov, Andrey Khrunin,

Ivan V. Mozgovoy

et al.

Biomedicines, Journal Year: 2023, Volume and Issue: 11(10), P. 2727 - 2727

Published: Oct. 8, 2023

Complex diseases that affect the functioning of central nervous system pose a major problem for modern society. Among these, ischemic stroke (IS) holds special place as one most common causes disability and mortality worldwide. Furthermore, Alzheimer’s disease (AD) ranks first among neurodegenerative diseases, drastically reducing brain activity overall life quality duration. Recent studies have shown AD IS share several risk pathogenic factors, such an overlapping genomic architecture molecular signature. In this review, we will summarize genomics RNA biology AD, discussing interconnected nature these pathologies. Additionally, highlight specific points molecules can serve potential tools in predicting risks developing effective therapies future.

Language: Английский

Neuronal dysfunction and gene modulation by non-coding RNA in Parkinson’s disease and synucleinopathies DOI Creative Commons
Rosaria Meccariello, Gian Carlo Bellenchi, Salvatore Pulcrano

et al.

Frontiers in Cellular Neuroscience, Journal Year: 2024, Volume and Issue: 17

Published: Jan. 5, 2024

Over the last few decades, emerging evidence suggests that non-coding RNAs (ncRNAs) including long-non-coding RNA (lncRNA), microRNA (miRNA) and circular-RNA (circRNA) contribute to molecular events underlying progressive neuronal degeneration, a plethora of ncRNAs have been identified significantly misregulated in many neurodegenerative diseases, Parkinson’s disease synucleinopathy. Although direct link between neuropathology causative candidates has not clearly established cases, contribution processes leading cellular dysfunction observed diseases addressed, suggesting they may play role pathophysiology these diseases. Aim present Review is overview discuss recent literature focused on RNA-based mechanisms involved different aspects pathology synucleinopathy models.

Language: Английский

Citations

8
The Role of Hydrogen Sulfide (H2S) in Epigenetic Regulation of Neurodegenerative Diseases: A Systematic Review DOI Open Access

Bombonica Gabriela Dogaru,

Constantin Munteanu

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(16), P. 12555 - 12555

Published: Aug. 8, 2023

This review explores the emerging role of hydrogen sulfide (H

Language: Английский

Citations

20
Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington Disease DOI Open Access
Marta Pengo, Ferdinando Squitieri

Genes, Journal Year: 2024, Volume and Issue: 15(6), P. 807 - 807

Published: June 19, 2024

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by CAG expansion on the huntingtin (HTT) gene and characterized progressive motor, cognitive, neuropsychiatric decline. Recently, new genetic factors besides repeats have been implicated in pathogenesis. Most modifiers are involved DNA repair pathways and, as cause of loss CAA interruption HTT gene, they exert their main influence through somatic expansion. However, this mechanism might not be only driver HD pathogenesis, future studies warranted field. The aim present review to dissect many faces genetics from cis- trans-acting RNA toxicity, mitochondrial mutations, epigenetics factors. Exploring onset progression appears crucial elucidate but also improve prediction prevention, develop biomarkers response therapies, recognize therapeutic opportunities. Since same mechanisms described other repeat diseases, implications encompass whole spectrum these disorders.

Language: Английский

Citations

6
The roles of long non-coding RNAs in Alzheimer's disease diagnosis, treatment, and their involvement in Alzheimer's disease immune responses DOI Creative Commons

Xiaoben Wu,

Pengcheng Xia,

Lei Yang

et al.

Non-coding RNA Research, Journal Year: 2024, Volume and Issue: 9(3), P. 659 - 666

Published: March 16, 2024

Alzheimer's disease (AD) is the most frequent type of dementia, presenting a substantial danger to health and well-being aged population. It has arisen as significant public problem with considerable socioeconomic repercussions. Unfortunately, no effective treatments or diagnostic tools are available for disease. Despite studies on pathophysiology Alzheimer's, molecular pathways underpinning its development remain poorly understood. Long non-coding RNAs (lncRNAs) vary in size from 200 nucleotides over 100 kilobytes have been found play critical roles various vital biological processes that developing This review intends examine functions long diagnosing treating their participation immunological responses associated AD.

Language: Английский

Citations

5
Decoding the role of the CCL2/CCR2 axis in Alzheimer’s disease and innovating therapeutic approaches: Keeping All options open DOI

Reyhaneh Arfaei,

Narges Mikaeili,

Fatemeh Daj

et al.

International Immunopharmacology, Journal Year: 2024, Volume and Issue: 135, P. 112328 - 112328

Published: May 25, 2024

Language: Английский

Citations

5
CircFUNDC1 interacts with CDK9 to promote mitophagy in nucleus pulposus cells under oxidative stress and ameliorates intervertebral disc degeneration DOI Creative Commons

Tianyuan Gu,

Yong He,

Jianan Zhou

et al.

Cell Death and Disease, Journal Year: 2025, Volume and Issue: 16(1)

Published: Feb. 13, 2025

Abstract Intervertebral disc degeneration (IVDD) is a leading cause of low back pain, with limited effective treatments due to an incomplete understanding disease mechanisms. In this study, we report that circFUNDC1, nuclear circular RNA, markedly downregulated in nucleus pulposus cells (NPCs) from patients end-stage IVDD. CircFUNDC1 derived the gene encoding FUN14 domain-containing 1 (FUNDC1) protein, which essential for mitophagy and cell survival. Functional analyses reveal circFUNDC1 plays crucial role maintaining extracellular matrix homeostasis by enhancing expression anabolic factors NPCs. Additionally, identified transcriptional regulator cyclin-dependent kinase 9 (CDK9) as novel binding partner circFUNDC1. Binding recruits CDK9 via complementary nucleotides FUNDC1 promoter stimulate production full-length mRNAs proteins, forming positive feedback loop. Overexpression protects NPCs oxidative stress promoting mitophagy, reducing reactive oxygen species levels, inhibiting cellular senescence. Moreover, overexpression delays onset IVDD ex-vivo culture model. This study first demonstrate vital protecting stress, suggesting potential therapeutic target

Language: Английский

Citations

0
LncRNAs Orchestrating Neuroinflammation: A Comprehensive Review DOI Creative Commons

Arash Esmaeili,

Niloufar Yazdanpanah, Nima Rezaei

et al.

Cellular and Molecular Neurobiology, Journal Year: 2025, Volume and Issue: 45(1)

Published: March 8, 2025

CNS diseases account for a major part of the comorbidity and mortality human population; moreover, neuroinflammation has become an indication different diseases, instance, Parkinson's Alzheimer's disease. Microglia astrocytes are two main glial cells that can be found in CNS. Each these plays important role mediating immune responses like inflammation. There many studies suggesting LncRNAs neuroinflammation. Indeed, orchestrate through various mechanisms, namely miRNA sponge, transcriptional activation/inhibition. In addition, regulate downstream pathways NF-κB, PI3K/AKT. this study, we gathered existing regarding mechanisms action pathogenesis neurodegenerative traumatic injuries regulating We aim to elaborate on regulatory roles bring more profound understanding etiology terms

Language: Английский

Citations

0
Standard methods and good practices in Apis honey bee omics research DOI
Maéva Angélique Techer, Priyadarshini Chakrabarti, Lílian Caesar

et al.

Journal of Apicultural Research, Journal Year: 2025, Volume and Issue: 64(2), P. 307 - 402

Published: March 15, 2025

Language: Английский

Citations

0
Atherosis-associated lnc_000048 activates PKR to enhance STAT1-mediated polarization of THP-1 macrophages to M1 phenotype DOI Creative Commons

Yuanyuan Ding,

Yu Sun,

Hongyan Wang

et al.

Neural Regeneration Research, Journal Year: 2024, Volume and Issue: 19(11), P. 2488 - 2498

Published: March 8, 2024

JOURNAL/nrgr/04.03/01300535-202411000-00029/figure1/v/2024-04-10T160327Z/r/image-tiff Our previous study has demonstrated that lnc_000048 is upregulated in large-artery atherosclerotic stroke and promotes atherosclerosis ApoE – / mice. However, little known about the role of classically activated macrophage (M1) polarization. In this study, we established THP-1-derived testing state macrophages (M0), M1 macrophages, alternately (M2). Real-time fluorescence quantitative PCR was used to verify expression marker genes macrophages. Flow cytometry detect phenotypic proteins (CD11b, CD38, CD80). We generated cell lines with lentivirus-mediated upregulation or downregulation . cytometry, western blot, real-time results showed down-regulation reduced polarization inflammation response, while over-expression led opposite effect. Western blot indicated enhanced activation STAT1 pathway mediated Moreover, catRAPID prediction, RNA-pull down, mass spectrometry were identify screen protein kinase RNA-activated (PKR), then RPIseq predict binding ability PKR. Immunofluorescence (IF)-RNA situ hybridization (FISH) double labeling performed subcellular colocalization PKR cytoplasm macrophage. speculate may form stem-loop structure-specific activate by inducing its phosphorylation, leading phosphorylation thereby enhancing pathway-mediated THP-1 inflammatory factor expression. Taken together, these reveal lnc_000048/PKR/STAT1 axis plays a crucial be novel therapeutic target for alleviation stroke.

Language: Английский

Citations

3
Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrations DOI Creative Commons
Liselot van der Laan, Nicky ten Voorde, Marcel M.A.M. Mannens

et al.

Frontiers in Molecular Neuroscience, Journal Year: 2024, Volume and Issue: 17

Published: July 29, 2024

Mendelian disorders, arising from pathogenic variations within single genetic loci, often manifest as neurodevelopmental disorders (NDDs), affecting a significant portion of the pediatric population worldwide. These are marked by atypical brain development, intellectual disabilities, and various associated phenotypic traits. Genetic testing aids in clinical diagnoses, but inconclusive results can prolong confirmation processes. Recent focus on epigenetic dysregulation has led to discovery DNA methylation signatures, or episignatures, with NDDs, accelerating diagnostic precision. Notably, TRIP12 USP7, genes involved ubiquitination pathway, exhibit specific episignatures. Understanding roles these pathway sheds light their potential influence episignature formation. While acts an E3 ligase, USP7 functions deubiquitinase, presenting contrasting ubiquitination. Comparison traits patients reveals both distinctions commonalities, offering insights into underlying pathophysiological mechanisms. This review contextualizes formation, implications for NDD pathogenesis. intricate relationships may unveil novel therapeutic targets strategies NDDs.

Language: Английский

Citations

2