4.6 Review

Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis

期刊

FRONTIERS IN GENETICS
卷 12, 期 -, 页码 -

出版社

FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2021.784996

关键词

ncRNA; circRNA; lncRNA; miRNA; amyotrophic lateral sclerosis; RNA-seq; neurodegenerative disorders; NGS

向作者/读者索取更多资源

NGS technologies allow parallel and massive sequencing of total RNA samples from different sources, enhancing understanding of molecular pathological processes in complex diseases. Biomarkers like circRNAs, miRNAs, and lncRNAs have been proposed as potential diagnostic tools for ALS, highlighting the importance of characterizing ncRNAs in the disease for future research.
Parallel and massive sequencing of total RNA samples derived from different samples are possible thanks to the use of NGS (Next Generation Sequencing) technologies. This allowed characterizing the transcriptomic profile of both cell and tissue populations, increasing the knowledge of the molecular pathological processes of complex diseases, such as neurodegenerative diseases (NDs). Among the NDs, Amyotrophic Lateral Sclerosis (ALS) is caused by the progressive loss of motor neurons (MNs), and, to date, the diagnosis is often made by exclusion because there is no specific symptomatologic picture. For this reason, it is important to search for biomarkers that are clinically useful for carrying out a fast and accurate diagnosis of ALS. Thanks to various studies, it has been possible to propose several molecular mechanisms associated with the disease, some of which include the action of non-coding RNA, including circRNAs, miRNAs, and lncRNAs which will be discussed in the present review. The evidence analyzed in this review highlights the importance of conducting studies to better characterize the different ncRNAs in the disease to use them as possible diagnostic, prognostic, and/or predictive biomarkers of ALS and other NDs.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Biochemistry & Molecular Biology

A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson's Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples

Andrea Termine, Carlo Fabrizio, Claudia Strafella, Valerio Caputo, Laura Petrosini, Carlo Caltagirone, Raffaella Cascella, Emiliano Giardina

Summary: This study used RNA-Seq data and various analysis methods to successfully identify subtypes of Parkinson's disease. Differential expression genes and disease mechanisms were discovered, providing important insights for precision medicine applications.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Health Care Sciences & Services

WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors

Carlo Fabrizio, Andrea Termine, Valerio Caputo, Domenica Megalizzi, Stefania Zampatti, Benedetto Falsini, Andrea Cusumano, Chiara Maria Eandi, Federico Ricci, Emiliano Giardina, Claudia Strafella, Raffaella Cascella

Summary: In this article, an open-source computational tool named WARE is introduced for assessing the individual risk profile of wet AMD. The tool utilizes genetic and non-genetic factors to evaluate the risk and provides a user-friendly interface for clinicians to report risk assessment results. It can be used to compute disease risk adjusted to different populations and to promote preventive actions and personalized medicine.

JOURNAL OF PERSONALIZED MEDICINE (2022)

Review Genetics & Heredity

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR

Shila Barati, Carlo Fabrizio, Claudia Strafella, Raffaella Cascella, Valerio Caputo, Domenica Megalizzi, Cristina Peconi, Julia Mela, Luca Colantoni, Carlo Caltagirone, Andrea Termine, Emiliano Giardina

Summary: This review discusses the main features of susceptibility and progression in neurodegenerative disorders (NDDs), focusing on Alzheimer's disease (AD) and Parkinson's disease (PD). Metabolism, dietary habits, physical exercise, and microbiota are essential for brain function and preservation. Genetic, epigenetic, and environmental factors can disrupt this balance, leading to neuroinflammation and neurodegeneration. Diet and exercise can directly impact epigenetic modifications and alter the expression of specific genes involved in NDDs. Nutrigenomics provides insights into precision medicine strategies for the treatment and management of these diseases.
Review Cell Biology

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD

Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella

Summary: Despite knowledge of the main mechanisms of FSHD, the complexity and variation of the disease make diagnosis, characterization, and genotype-phenotype correlation difficult. Further research is needed to understand the genetic and epigenetic factors involved in FSHD and develop novel treatment strategies.
Review Cell Biology

Long-noncoding RNAs as epigenetic regulators in neurodegenerative diseases

Paola Ruffo, Francesca De Amicis, Emiliano Giardina, Francesca Luisa Conforti

Summary: The development of high-throughput sequencing technologies has greatly enhanced our understanding of gene expression regulation. Editing the epigenome and epitranscriptome can influence the fate and function of mRNA, with non-coding RNAs playing a crucial role in this regulation. Long non-coding RNAs have been found to act as epigenetic regulators in neurodegenerative disorders, and their dysregulation may contribute to neuronal degeneration through RNA modifications. Exploring the diagnostic and therapeutic potential of long non-coding RNAs could lead to novel treatments for these incurable diseases.

NEURAL REGENERATION RESEARCH (2023)

Article Genetics & Heredity

NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs

Riccardo Giannico, Luca Forlani, Valentina Andrioletti, Ettore Cotroneo, Andrea Termine, Carlo Fabrizio, Raffaella Cascella, Luca Salvaderi, Pasquale Linarello, Debora Varrone, Laura Gigante, Emiliano Giardina

Summary: In 1997, Cell-Free Fetal DNA (cffDNA) was found in maternal plasma. cffDNA has been studied as a source of non-invasive prenatal testing for fetal pathologies and paternity testing. This study presents a non-invasive prenatal paternity test (NIPAT) using Next Generation Sequencing (NGS) to analyze 861 Single Nucleotide Variants (SNV) from cffDNA. The test has shown high accuracy in real cases according to the log(CPI) values generated.
Article Medicine, General & Internal

Longitudinal Structure-Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Andrea Cusumano, Benedetto Falsini, Fabian D'Apolito, Michele D'Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina

Summary: In this study, a longitudinal structure-function evaluation was performed on a patient with CDHR1-related retinal dystrophy over three years. The results showed that the patient experienced progressive visual loss accompanied by increased inner retinal thickness, while the outer retina remained unchanged. These findings suggest that inner retinal changes may be relevant for therapeutic interventions aiming to mitigate photoreceptor loss through gene therapy or stem cells.

DIAGNOSTICS (2023)

Review Biology

Resveratrol, Epigallocatechin Gallate and Curcumin for Cancer Therapy: Challenges from Their Pro-Apoptotic Properties

Adele Chimento, Maria D'Amico, Arianna De Luca, Francesca Luisa Conforti, Vincenzo Pezzi, Francesca De Amicis

Summary: Plant-derived bioactive compounds are being widely studied for their significant anti-cancer properties, including cancer prevention, improved chemotherapy effectiveness, and mitigation of chemotherapy side effects. This paper provides an overview of the literature on the anti-cancer effects of three extensively studied plant-derived compounds, namely resveratrol, epigallocatechin gallate, and curcumin, with a focus on their molecular mechanisms inducing apoptosis in major types of cancers globally.

LIFE-BASEL (2023)

Article Biochemistry & Molecular Biology

Cdk4 Regulates Glioblastoma Cell Invasion and Stemness and Is Target of a Notch Inhibitor Plus Resveratrol Combined Treatment

Francesca Giordano, Maria D'Amico, Francesca Ida Montalto, Rocco Malivindi, Adele Chimento, Francesca Luisa Conforti, Vincenzo Pezzi, Maria Luisa Panno, Sebastiano Ando, Francesca De Amicis

Summary: Glioblastoma multiforme (GBM) is an aggressive cancer type with poor outcomes, and enrichment of GBM stem cells (GSCs) is believed to be the cause of its recurrence and chemoresistance. In this study, low-dose treatment of γ-secretase inhibitor RO4929097 (GSI) and resveratrol (RSV) reversed the mesenchymal phenotype of GBM cells to an epithelial-like phenotype, affecting invasion and stemness. The mechanism involves cyclin D1, cyclin-dependent kinase (CDK4), and paxillin (Pxn) phosphorylation, leading to reduced Pxn interaction with vinculin (Vcl) and altered cell migration. The study suggests that targeting Cdk4 with Notch inhibitors and RSV could be a potential therapeutic strategy for aggressive brain tumors.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Article Biochemistry & Molecular Biology

Deregulation of Plasma microRNA Expression in a TARDBP-ALS Family

Paola Ruffo, Stefania Catalano, Vincenzo La Bella, Francesca Luisa Conforti

Summary: TDP-43 intracellular aggregates are a pathogenic sign of most amyotrophic lateral sclerosis (ALS) cases. Growing evidence suggests a role for dysregulated microRNA (miRNA) in ALS disease. Our research group discovered a rare mutation in a TARDBP gene (G376D) in a large ALS Apulian family with affected members exhibiting a rapidly progressing disease. We highlight the potential of miR-132-5p, miR-132-3p, miR-124-3p, and miR-133a-3p expression levels in plasma as biomarkers of preclinical progression for G376D-TARDBP-associated ALS.

BIOMOLECULES (2023)

Review Food Science & Technology

Food System Transformation and Gut Microbiota Transition: Evidence on Advancing Obesity, Cardiovascular Diseases, and Cancers-A Narrative Review

Jasper Okoro Godwin Elechi, Rosa Sirianni, Francesca Luisa Conforti, Erika Cione, Michele Pellegrino

Summary: Food is essential for our health and has been passed down through generations. The gut microbiota undergoes changes due to the food system, which can affect human health. The gut microbiome has gained attention for its effects on nutrition and disease. This review explains how changes in the food system impact the gut microbiota and contribute to obesity, cardiovascular disease, and cancer. Sustainable food system transformation strategies are discussed to improve microbiota composition and reverse non-communicable diseases.
Article Medicine, Research & Experimental

Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents

Benedetta Perrone, Paola Ruffo, Giuseppina Augimeri, Diego Sisci, Maria Stefania Sinicropi, Giovanni Tripepi, Corrado Mammi, Daniela Bonofiglio, Francesca Luisa Conforti

Summary: This study aimed to explore the genetic factors related to the metabolic/inflammatory profile of adolescents, and identified significant associations between genetic polymorphisms and serum metabolic parameters. These findings provide evidence for the importance of genetic profiling in the prevention and management of chronic diseases.

JOURNAL OF TRANSLATIONAL MEDICINE (2023)

Article Cell Biology

A Diagnostic Gene-Expression Signature in Fibroblasts of Amyotrophic Lateral Sclerosis

Giovanna Morello, Valentina La Cognata, Maria Guarnaccia, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavallaro

Summary: This study characterized transcriptome changes in skin fibroblasts of ALS patients and identified 277 differentially expressed transcripts that could serve as molecular biomarkers for ALS diagnosis.
Review Nutrition & Dietetics

The Role of Epigenetic Control of Mitochondrial (Dys)Function in MASLD Onset and Progression

Valerio Caputo, Giovanni Tarantino, Silvano Junior Santini, Giovanna Fracassi, Clara Balsano

Summary: Metabolic dysfunction-associated steatotic fatty liver disease (MASLD), a novel definition for NAFLD, is one of the most common liver diseases with increasing incidence worldwide. Its complex etiopathogenesis involves mitochondrial dysfunction, altered lipid metabolism, inflammation, and oxidative stress. Changes in diet and lifestyle, as well as the influence of natural compounds, can modulate these mechanisms and improve the understanding and treatment of MASLD.

NUTRIENTS (2023)

暂无数据