{"title":"Integrative Analysis of Whole-Genome and Transcriptomic Data Reveals Novel Variants in Differentially Expressed Long Noncoding RNAs Associated with Asthenozoospermia.","authors":"Maria-Anna Kyrgiafini, Maria Katsigianni, Themistoklis Giannoulis, Theologia Sarafidou, Alexia Chatziparasidou, Zissis Mamuris","doi":"10.3390/ncrna11010004","DOIUrl":"10.3390/ncrna11010004","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Emerging evidence suggests that noncoding RNAs, particularly long noncoding RNAs (lncRNAs), play a critical role in the regulation of spermatogenesis and sperm function. Coding regions have a well-characterized role and established predictive value in asthenozoospermia. However, this study was designed to complement previous findings and provide a more holistic understanding of asthenozoospermia, this time focusing on noncoding regions. This study aimed to identify and prioritize variants in differentially expressed (DE) lncRNAs found exclusively in asthenozoospermic men, focusing on their impact on lncRNA structure and lncRNA-miRNA-mRNA interactions. <b>Methods</b>: Whole-genome sequencing (WGS) was performed on samples from asthenozoospermic and normozoospermic men. Additionally, an RNA-seq dataset from normozoospermic and asthenozoospermic individuals was analyzed to identify DE lncRNAs. Bioinformatics analyses were conducted to map unique variants on DE lncRNAs, followed by prioritization based on predicted functional impact. The structural impact of the variants and their effects on lncRNA-miRNA interactions were assessed using computational tools. Gene ontology (GO) and KEGG pathway analyses were employed to investigate the affected biological processes and pathways. <b>Results</b>: We identified 4173 unique variants mapped to 258 DE lncRNAs. After prioritization, 5 unique variants in 5 lncRNAs were found to affect lncRNA structure, while 20 variants in 17 lncRNAs were predicted to disrupt miRNA-lncRNA interactions. Enriched pathways included Wnt signaling, phosphatase binding, and cell proliferation, all previously implicated in reproductive health. <b>Conclusions</b>: This study identifies specific variants in DE lncRNAs that may play a role in asthenozoospermia. Given the limited research utilizing WGS to explore the role of noncoding RNAs in male infertility, our findings provide valuable insights and a foundation for future studies.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"11 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2025-01-12DOI: 10.3390/ncrna11010003
Alessia Finotti, Roberto Gambari
{"title":"Perspectives in MicroRNA Therapeutics for Cystic Fibrosis.","authors":"Alessia Finotti, Roberto Gambari","doi":"10.3390/ncrna11010003","DOIUrl":"10.3390/ncrna11010003","url":null,"abstract":"<p><p>The discovery of the involvement of microRNAs (miRNAs) in cystic fibrosis (CF) has generated increasing interest in the past years, due to their possible employment as a novel class of drugs to be studied in pre-clinical settings of therapeutic protocols for cystic fibrosis. In this narrative review article, consider and comparatively evaluate published laboratory information of possible interest for the development of miRNA-based therapeutic protocols for cystic fibrosis. We consider miRNAs involved in the upregulation of CFTR, miRNAs involved in the inhibition of inflammation and, finally, miRNAs exhibiting antibacterial activity. We suggest that antago-miRNAs and ago-miRNAs (miRNA mimics) can be proposed for possible validation of therapeutic protocols in pre-clinical settings.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"11 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2025-01-09DOI: 10.3390/ncrna11010002
Sophie Schröder, M Sadman Sakib, Dennis M Krüger, Tonatiuh Pena, Susanne Burkhardt, Anna-Lena Schütz, Farahnaz Sananbenesi, André Fischer
{"title":"LncRNA <i>3222401L13Rik</i> Is Upregulated in Aging Astrocytes and Regulates Neuronal Support Function Through Interaction with Npas3.","authors":"Sophie Schröder, M Sadman Sakib, Dennis M Krüger, Tonatiuh Pena, Susanne Burkhardt, Anna-Lena Schütz, Farahnaz Sananbenesi, André Fischer","doi":"10.3390/ncrna11010002","DOIUrl":"10.3390/ncrna11010002","url":null,"abstract":"<p><p>Aging leads to cognitive decline and increased risk of neurodegenerative diseases. While molecular changes in central nervous system (CNS) cells contribute to this decline, the mechanisms are not fully understood. Long non-coding RNAs (lncRNAs) are key regulators of cellular functions. <b>Background/Objectives:</b> The roles of lncRNAs in aging, especially in glial cells, are not well characterized. <b>Methods:</b> We investigated lncRNA expression in non-neuronal cells from aged mice and identified 3222401L13Rik, a previously unstudied lncRNA, as upregulated in astrocytes during aging. <b>Results:</b> Knockdown of 3222401L13Rik in primary astrocytes revealed its critical role in regulating genes for neuronal support and synapse organization, a function conserved in human iPSC-derived astrocytes. A 3222401L13Rik interacts with the transcription factor Neuronal PAS Domain Protein 3 (Npas3), and overexpression of Npas3 rescues deficits in astrocytes lacking 3222401L13Rik. <b>Conclusions:</b> These data suggest that 3222401L13Rik upregulation may help delay age-related cognitive decline.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"11 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"RNA Metabolism and the Role of Small RNAs in Regulating Multiple Aspects of RNA Metabolism.","authors":"Pranav Dawar, Indra Adhikari, Swarupa Nanda Mandal, Bhumika Jayee","doi":"10.3390/ncrna11010001","DOIUrl":"10.3390/ncrna11010001","url":null,"abstract":"<p><p>RNA metabolism is focused on RNA molecules and encompasses all the crucial processes an RNA molecule may or will undergo throughout its life cycle. It is an essential cellular process that allows all cells to function effectively. The transcriptomic landscape of a cell is shaped by the processes such as RNA biosynthesis, maturation (RNA processing, folding, and modification), intra- and inter-cellular transport, transcriptional and post-transcriptional regulation, modification, catabolic decay, and retrograde signaling, all of which are interconnected and are essential for cellular RNA homeostasis. In eukaryotes, sRNAs, typically 20-31 nucleotides in length, are a class of ncRNAs found to function as nodes in various gene regulatory networks. sRNAs are known to play significant roles in regulating RNA population at the transcriptional, post-transcriptional, and translational levels. Along with sRNAs, such as miRNAs, siRNAs, and piRNAs, new categories of ncRNAs, i.e., lncRNAs and circRNAs, also contribute to RNA metabolism regulation in eukaryotes. In plants, various genetic screens have demonstrated that sRNA biogenesis mutants, as well as RNA metabolism pathway mutants, exhibit similar growth and development defects, misregulated primary and secondary metabolism, as well as impaired stress response. In addition, sRNAs are both the \"products\" and the \"regulators\" in broad RNA metabolism networks; gene regulatory networks involving sRNAs form autoregulatory loops that affect the expression of both sRNA and the respective target. This review examines the interconnected aspects of RNA metabolism with sRNA regulatory pathways in plants. It also explores the potential conservation of these pathways across different kingdoms, particularly in plants and animals. Additionally, the review highlights how cellular RNA homeostasis directly impacts adaptive responses to environmental changes as well as different developmental aspects in plants.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"11 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2024-12-12DOI: 10.3390/ncrna10060062
George A Calin, Florent Hubé, Michael R Ladomery, Nicholas Delihas, Manuela Ferracin, Laura Poliseno, Luca Agnelli, Suresh K Alahari, Ai-Ming Yu, Xiao-Bo Zhong
{"title":"The 2024 Nobel Prize in Physiology or Medicine: microRNA Takes Center Stage.","authors":"George A Calin, Florent Hubé, Michael R Ladomery, Nicholas Delihas, Manuela Ferracin, Laura Poliseno, Luca Agnelli, Suresh K Alahari, Ai-Ming Yu, Xiao-Bo Zhong","doi":"10.3390/ncrna10060062","DOIUrl":"10.3390/ncrna10060062","url":null,"abstract":"<p><p>The <i>Non-coding</i> Journal Editorial Board Members would like to congratulate Victor Ambros and Gary Ruvkun, who were jointly awarded the 2024 Nobel Prize in Physiology or Medicine for their groundbreaking discovery of microRNAs and the role of microRNAs in post-transcriptional gene regulation, uncovering a previously unknown layer of gene control in eukaryotes [...].</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11679529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2024-12-02DOI: 10.3390/ncrna10060061
Roman A Illarionov, Anastasia R Maltseva, Olga V Pachuliia, Tatiana B Postnikova, Elena S Vashukova, Anastasiia K Popova, Yulia A Nasykhova, Olesya N Bespalova, Andrey S Glotov
{"title":"Urinary miRNA Expression in Pre-Eclampsia During Early and Mid-Pregnancy.","authors":"Roman A Illarionov, Anastasia R Maltseva, Olga V Pachuliia, Tatiana B Postnikova, Elena S Vashukova, Anastasiia K Popova, Yulia A Nasykhova, Olesya N Bespalova, Andrey S Glotov","doi":"10.3390/ncrna10060061","DOIUrl":"10.3390/ncrna10060061","url":null,"abstract":"<p><p><b>Background:</b> Pre-eclampsia (PE) is a serious condition affecting 2-8% of pregnancies worldwide, leading to high maternal and fetal morbidity and mortality. MicroRNAs (miRNAs), small non-coding RNA molecules, have emerged as potential biomarkers for various pregnancy-related pathologies, including PE. MiRNAs in plasma and serum have been extensively studied, but urinary miRNAs remain underexplored, especially during early pregnancy. This study aimed to investigate the urinary miRNA expression profiles in women with pre-eclampsia during the first and second trimesters. <b>Materials and Methods:</b> A prospective study was conducted using 48 urine samples from 24 pregnant women (n = 12 pre-eclampsia and n = 12 controls). Urine samples were collected in the first (9-13 weeks) and second (22-24 weeks) trimesters. MiRNA isolation, library preparation, and high-throughput sequencing were performed, followed by differential expression and enrichment analyses. <b>Results:</b> In the first trimester, five miRNAs were dysregulated in PE in comparison with the control group (hsa-miR-184, hsa-miR-203a-3p, hsa-miR-205-5p, hsa-miR-223-3p-downregulated; hsa-miR-1-3p-upregulated). In the second trimester, hsa-miR-205-5p and hsa-miR-223-3p were downregulated, and hsa-miR-9-5p, hsa-miR-1-3p, and hsa-miR-206 were upregulated. <b>Conclusions:</b> Our study identified differentially expressed miRNAs in the urine of pre-eclamptic patients during early pregnancy. These findings suggest that specific urinary miRNAs could serve as non-invasive biomarkers for the early detection and risk assessment of pre-eclampsia. The changes in the level of differential expression of miRNAs during gestation highlight their role in the progression of PE. Further research and validation with a larger cohort are needed to explore their clinical potential for improving maternal and fetal outcomes through early intervention.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Identification of Tumor-Suppressive <i>miR-30a-3p</i> Controlled Genes: <i>ANLN</i> as a Therapeutic Target in Breast Cancer.","authors":"Reiko Mitsueda, Ayako Nagata, Hiroko Toda, Yuya Tomioka, Ryutaro Yasudome, Mayuko Kato, Yoshiaki Shinden, Akihiro Nakajo, Naohiko Seki","doi":"10.3390/ncrna10060060","DOIUrl":"10.3390/ncrna10060060","url":null,"abstract":"<p><p>Our recently created RNA-sequence-based microRNA (miRNA) expression signature in breast cancer clinical specimens revealed that some <i>miR-30</i> family members were significantly downregulated in cancer tissues. Based on TCGA database analyses, we observed that among the <i>miR-30</i> family members, <i>miR-30a-3p</i> (the passenger strand derived from pre-<i>miR-30a</i>) was significantly downregulated in breast cancer (BC) clinical specimens, and its low expression predicted worse prognoses. Ectopic expression assays showed that <i>miR-30a-3p</i> transfected cancer cells (MDA-MB-157 and MDA-MB-231) had their aggressive phenotypes significantly suppressed, e.g., their proliferation, migration, and invasion abilities. These data indicated that <i>miR-30a-3p</i> acted as a tumor-suppressive miRNA in BC cells. Our subsequent search for <i>miR-30a-3p</i> controlled molecular networks in BC cells yielded a total of 189 genes. Notably, among those 189 genes, cell-cycle-related genes (<i>ANLN</i>, <i>MKI67</i>, <i>CCNB1</i>, <i>NCAPG</i>, <i>ZWINT</i>, <i>E2F7</i>, <i>PDS5A</i>, <i>RIF1</i>, <i>BIRC5</i>, <i>MAD2L1</i>, <i>CACUL1</i>, <i>KIF23</i>, <i>UBE2S</i>, <i>EML4</i>, <i>SEPT10</i>, <i>CLTC</i>, and <i>PCNP</i>) were enriched according to a GeneCodis 4 database analysis. Moreover, the overexpression of four genes (<i>ANLN</i>, <i>CCNB1</i>, <i>BIRC5</i>, and <i>KIF23</i>) significantly predicted worse prognoses for patients with BC according to TCGA analyses. Finally, our assays demonstrated that the overexpression of <i>ANLN</i> had cancer-promoting functions in BC cells. The involvement of <i>miR-30a-3p</i> (the passenger strand) in BC molecular pathogenesis is a new concept in cancer research, and the outcomes of our study strongly indicate the importance of analyzing passenger strands of miRNAs in BC cells.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2024-11-28DOI: 10.3390/ncrna10060059
Nicholas M Kiger, Susan J Schroeder
{"title":"<i>SVALKA</i>: A Long Noncoding Cis-Natural Antisense RNA That Plays a Role in the Regulation of the Cold Response of <i>Arabidopsis thaliana</i>.","authors":"Nicholas M Kiger, Susan J Schroeder","doi":"10.3390/ncrna10060059","DOIUrl":"10.3390/ncrna10060059","url":null,"abstract":"<p><p>RNA plays important roles in the regulation of gene expression in response to environmental stimuli. <i>SVALKA</i>, a long noncoding cis-natural antisense RNA, is a key component of regulating the response to cold temperature in <i>Arabidopsis thaliana</i>. There are three mechanisms through which <i>SVALKA</i> fine tunes the transcriptional response to cold temperatures. <i>SVALKA</i> regulates the expression of the <i>CBF1</i> (C-Repeat Dehydration Binding Factor 1) transcription factor through a collisional transcription mechanism and a dsRNA and DICER mediated mechanism. <i>SVALKA</i> also interacts with Polycomb Repressor Complex 2 to regulate the histone methylation of <i>CBF3</i>. Both <i>CBF1</i> and <i>CBF3</i> are key components of the <i>COLD REGULATED</i> (<i>COR)</i> regulon that direct the plant's response to cold temperature over time, as well as plant drought adaptation, pathogen responses, and growth regulation. The different isoforms of <i>SVALKA</i> and its potential to form dynamic RNA conformations are important features in regulating a complex gene network in concert with several other noncoding RNA. This review will summarize the three mechanisms through which <i>SVALKA</i> participates in gene regulation, describe the ways that dynamic RNA structures support the function of regulatory noncoding RNA, and explore the potential for improving agricultural genetic engineering with a better understanding of the roles of noncoding RNA.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2024-11-26DOI: 10.3390/ncrna10060058
Eun Hye Lee, Mingyoung Jeong, Kwangmin Park, Dong Geon Lee, Eun Ju Lee, Haneul Lee, Ah Yeoung Kim, Jae Won Ahn, Hyun Jun Woo, Sunghyun Kim, Jaewon Lim, Jungho Kim
{"title":"Detection of miR-133a-5p Using a Molecular Beacon Probe for Investigating Postmortem Intervals.","authors":"Eun Hye Lee, Mingyoung Jeong, Kwangmin Park, Dong Geon Lee, Eun Ju Lee, Haneul Lee, Ah Yeoung Kim, Jae Won Ahn, Hyun Jun Woo, Sunghyun Kim, Jaewon Lim, Jungho Kim","doi":"10.3390/ncrna10060058","DOIUrl":"10.3390/ncrna10060058","url":null,"abstract":"<p><p><b>Background:</b> When a body is discovered at a crime or murder scene, it is crucial to examine the body and estimate its postmortem interval (PMI). Accurate estimation of PMI is vital for identifying suspects and providing clues to resolve the case. MicroRNAs (miRNAs or miRs) are small non-coding RNAs that remain relatively stable in the cell nucleus even after death-related changes occur. <b>Objective</b>: This study developed a molecular beacon probe for mmu-miR-133a-5p and assessed its use in mouse muscle tissue at temperatures of 4 °C and 21 °C to estimate the PMI. <b>Methods:</b> A total of 36 healthy adult male BALB/c mice were divided into 9 PMI time points (0, 2, 6, 8, and 10 days) with 3 mice per time point, and they were exposed to 4 °C and 21 °C. Next, the expression pattern of mmu-miR-133a in the skeletal muscle tissue over a 10-day PMI period was analyzed using the developed molecular beacon probe. <b>Results:</b> The molecular beacon (MB) probe was designed for optimal thermodynamic stability with a hairpin structure that opened in the presence of mmu-miR-133a-5p, thus separating the fluorophore from the quencher and resulting in a strong fluorescence signal at 495 nm. Fluorescence intensity increased with mmu-miR-133a-5p concentration from 1 ng/μL to 1000 ng/μL and exhibited a strong correlation (R<sup>2</sup> = 0.9966) and a detection limit of 1 ng/μL. Subsequently, the expression level of mmu-miR-133a-5p was observed to be stable in mouse skeletal muscle tissue at both 4 °C and 21 °C. <b>Conclusions:</b> This user-friendly assay can complete measurements in just 30 min after RNA extraction and is suitable for point-of-care testing, and it possesses the potential to improve existing complex and time-consuming methods for PMI estimation.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11676884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-Coding RNAPub Date : 2024-11-15DOI: 10.3390/ncrna10060057
Rick Kamps, Emma Louise Robinson
{"title":"LNC-ing Genetics in Mitochondrial Disease.","authors":"Rick Kamps, Emma Louise Robinson","doi":"10.3390/ncrna10060057","DOIUrl":"10.3390/ncrna10060057","url":null,"abstract":"<p><p>Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber's hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial dysfunction has been implicated in the most common current causes of mortality and morbidity, including cardiovascular disease (CVD) and cancer. Identifying key genetic contributors to both MD and secondary mitochondrial dysfunction may guide clinicians to assess the most effective treatment course and prognosis, as well as informing family members of any hereditary risk of disease transmission. Identifying underlying genetic causes of primary and secondary MD involves either genome sequencing (GS) or small targeted panel analysis of known disease-causing nuclear- or mitochondrial genes coding for mitochondria-related proteins. Due to advances in GS, the importance of long non-coding RNA (lncRNA) as functional contributors to the pathophysiology of MD is being unveiled. A limited number of studies have thus far reported the importance of lncRNAs in relation to MD causation and progression, and we are entering a new area of attention for clinical geneticists in specific rare malignancies. This commentary provides an overview of what is known about the role of lncRNAs as genetic and molecular contributors to disease pathophysiology and highlights an unmet need for a deeper understanding of mitochondrial dysfunction in serious human disease burdens.</p>","PeriodicalId":19271,"journal":{"name":"Non-Coding RNA","volume":"10 6","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}