Article
Neurosciences
Nicholas F. Fitz, Jiebiao Wang, M. Ilyas Kamboh, Radosveta Koldamova, Iliya Lefterov
Summary: The study used RNA-seq to analyze noncoding RNAs in plasma-derived extracellular vesicles of Alzheimer's disease patients and Cognitively Normal controls, revealing enrichment of SNORDs in AD samples. With the use of ddPCR technique, SNORD115 and SNORD116 were identified as having high discriminatory power to differentiate AD samples from NC.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Clinical Neurology
Xin Ying Chua, Federico Torta, Joyce R. Chong, Narayanaswamy Venketasubramanian, Saima Hilal, Markus R. Wenk, Christopher P. Chen, Thiruma V. Arumugam, Deron R. Herr, Mitchell K. P. Lai
Summary: AD and VaD are associated with distinct changes of plasma sphingolipids, and specific combinations of sphingolipids panels have higher sensitivity and specificity for classification of AD and VaD, compared to NCI.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Biochemistry & Molecular Biology
John S. Tzartos, Fotini Boufidou, Christos Stergiou, Jens Kuhle, Eline Willemse, Lina Palaiodimou, Ioanna Tsantzali, Eleni Sideri, Anastasios Bonakis, Sotirios Giannopoulos, Konstantinos I. Voumvourakis, Georgios Tsivgoulis, Socrates J. Tzartos, Elisabeth Kapaki, George P. Paraskevas
Summary: Plasma phospho-tau181 may serve as a potential biomarker for Alzheimer's disease, but further research and validation are needed.
Article
Biochemistry & Molecular Biology
S. Charisis, E. Ntanasi, M. Yannakoulia, C. A. Anastasiou, M. H. Kosmidis, E. Dardiotis, G. Hadjigeorgiou, P. Sakka, A. S. Veskoukis, D. Kouretas, N. Scarmeas
Summary: The study found that higher baseline plasma GSH levels were associated with a decreased risk of developing AD and with a better preservation of executive functioning longitudinally in non-demented older adults living in the community.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Cinzia Aurilia, Simone Donati, Gaia Palmini, Francesca Miglietta, Irene Falsetti, Teresa Iantomasi, Maria Luisa Brandi
Summary: Tumors of the parathyroid glands are common endocrine diseases characterized by parathyroid hormone hypersecretion, with a wide range of clinical presentations and typically treated through surgical removal. Recent studies have suggested that alterations to the epigenetic mechanisms could play a pivotal role in tumorigenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Liu-Yun Wu, Irwin K. Cheah, Joyce Ruifen Chong, Yuek Ling Chai, Jia Yun Tan, Saima Hilal, Henri Vrooman, Christopher P. Chen, Barry Halliwell, Mitchell K. P. Lai
Summary: The study found that plasma Ergothioneine (ET) concentrations were lowest in dementia patients, significantly lower compared to those with normal cognitive function or cognitive impairment. Low levels of ET were associated with disease severity and could potentially serve as a biomarker for cognitive impairment.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Miriam Rabl, Christopher Clark, Loic Dayon, Gene L. Bowman, Julius Popp
Summary: This study identified a panel of specific blood proteins associated with current and future neuropsychiatric symptoms (NPS) and cognitive decline in older individuals using proteomic analysis. These findings have the potential to serve as blood-based biomarkers for the pathological alterations relevant to NPS and related disease progression.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Clinical Neurology
Antoinette O'Connor, Josef Pannee, Teresa Poole, Charles Arber, Erik Portelius, Imogen J. Swift, Amanda J. Heslegrave, Emily Abel, Nanet Willumsen, Helen Rice, Philip S. J. Weston, Natalie S. Ryan, James M. Polke, Jennifer M. Nicholas, Simon Mead, Selina Wray, Lucia Chavez-Gutierrez, Chris Frost, Kaj Blennow, Henrik Zetterberg, Nick C. Fox
Summary: In this study, differences in amyloid-beta processing between PSEN1 and APP carriers were identified, providing insights into disease pathophysiology and potential implications for therapy development. The analysis of plasma and cell line models demonstrated consistent amyloid-B profiles, with associations found between A beta 42:38, AB42:40, and A beta 38:40 ratios and parental age at onset in the PSEN1 group.
Article
Geriatrics & Gerontology
Ruijuan Chen, Yuanjing Yi, Wenbiao Xiao, Bowen Zhong, Le Zhang, Yi Zeng
Summary: This study used LC-MS/MS to identify potential urine biomarkers for vascular dementia (VD) and revealed the underlying disease mechanisms. The results showed quantitative changes in urine proteins that can distinguish VD from Alzheimer's disease (AD) and normal controls. Additionally, 10 VD-related proteins were confirmed.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Review
Gastroenterology & Hepatology
Zheng-Dong Luo, Yi-Feng Wang, Yu-Xiao Zhao, Long-Chen Yu, Tian Li, Ying-Jing Fan, Shun-Jie Zeng, Yan-Li Zhang, Yi Zhang, Xin Zhang
Summary: Colorectal cancer (CRC) is a common digestive tract malignancy with increasing incidence and mortality. Resistance to oxaliplatin-based chemotherapy is a major issue in advanced CRC patients. Many studies have shown the involvement of non-coding RNAs (ncRNAs) in cancer progression, including microRNAs, long non-coding RNAs, and circular RNAs. This review summarizes the mechanisms by which ncRNAs regulate oxaliplatin resistance in CRC and discusses their potential as biomarkers for liquid CRC biopsy. Targeting ncRNAs provides new insights into overcoming oxaliplatin resistance in CRC.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Review
Gastroenterology & Hepatology
Zheng-Dong Luo, Yi-Feng Wang, Yu-Xiao Zhao, Long-Chen Yu, Tian Li, Ying-Jing Fan, Shun-Jie Zeng, Yan-Li Zhang, Yi Zhang, Xin Zhang
Summary: Colorectal cancer is a common malignancy with increasing incidence and mortality rates. Resistance to oxaliplatin-based chemotherapy is a major challenge in advanced CRC patients. Non-coding RNAs (ncRNAs) have been found to play a crucial role in cancer progression, including the development of chemoresistance to oxaliplatin. This review summarizes the mechanisms by which ncRNAs regulate CRC chemoresistance and explores their potential as biomarkers for liquid CRC biopsy, providing new insights for overcoming oxaliplatin resistance by targeting ncRNAs.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Neurosciences
Anna Lidia Wojdala, Giovanni Bellomo, Lorenzo Gaetani, Andrea Toja, Elena Chipi, Dandan Shan, Davide Chiasserini, Lucilla Parnetti
Summary: The transition from cerebrospinal fluid (CSF) to plasma provides new avenues for studying molecular phenotypes of Alzheimer's disease (AD). This study evaluated a panel of AD biomarkers in matched CSF and plasma samples, comparing their diagnostic performance and evaluating their trajectories along the AD progression. The findings suggest that a standardized panel of selected plasma markers can facilitate early AD diagnosis and monitoring of disease progression.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Neurosciences
R. Babapour Mofrad, M. del Campo, C. F. W. Peeters, L. H. H. Meeter, H. Seelaar, M. Koel-Simmelink, I. H. G. B. Ramakers, H. A. M. Middelkoop, P. P. De Deyn, J. A. H. R. Claassen, J. C. van Swieten, C. Bridel, J. J. M. Hoozemans, P. Scheltens, W. M. van der Flier, Y. A. L. Pijnenburg, Charlotte E. Teunissen
Summary: This study aimed to identify specific plasma biomarker profiles to distinguish FTD from AD and controls, as well as different FTD pathological subtypes. While a promising plasma protein panel was found to accurately differentiate FTD from AD, no specific plasma profiles for FTD or its subtypes were identified.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Reza Yarani, Oana Palasca, Nadezhda T. Doncheva, Christian Anthon, Bartosz Pilecki, Cecilie A. S. Svane, Aashiq H. Mirza, Thomas Litman, Uffe Holmskov, Claus H. Bang-Berthelsen, Mogens Vilien, Lars J. Jensen, Jan Gorodkin, Flemming Pociot
Summary: This study identified common conserved pathological UC-related gene expression signatures between humans and mice by comparing gene expression data. These signatures can be used as treatment targets or biomarker candidates. Less known genes with importance in disease pathogenesis were identified and validated in different samples. The findings contribute to disease phenotyping, treatment decisions, drug discovery, and clinical trial design.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Review
Pharmacology & Pharmacy
Zeyidan Jiapaer, Chengyu Li, Xinyu Yang, Lingfei Sun, Emeli Chatterjee, Lingying Zhang, Ji Lei, Guoping Li
Summary: Cardiovascular diseases (CVDs) remain the leading cause of death worldwide despite advances in healthcare. Extracellular vesicles (EVs), particularly the RNA cargo, are recognized as promising targets for diagnosis and therapy in CVDs. Various types of non-coding RNAs (ncRNAs), such as small ncRNAs, circular RNAs, and long ncRNAs, have been found to modulate biological processes in recipient cells. This review summarizes recent research on the origin, carriers, functional mechanisms, and pathological roles of extracellular ncRNAs in different CVDs, and discusses the challenges and developments in using them as biomarkers or therapeutic targets.
Article
Clinical Neurology
Nadia Ronzano, Marcello Scala, Emanuela Abiusi, Ilaria Contaldo, Chiara Leoni, Maria Stella Vari, Tiziana Pisano, Domenica Battaglia, Maurizio Genuardi, Maurizio Elia, Pasquale Striano, Dario Pruna
Summary: This study aims to analyze the characteristics of EEG traces, neuroimaging findings, and epilepsy in patients with PTEN variants. The study found that EEG should be considered in the first-line diagnostic flowchart for PTEN variant patients, and focal cortical dysplasia is significantly associated with abnormal EEG and seizures.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Review
Oncology
Cristina Barbagallo, Michele Stella, Giuseppe Broggi, Andrea Russo, Rosario Caltabiano, Marco Ragusa
Summary: Uveal melanoma (UM) is a rare eye cancer with a high mortality rate due to metastases. UM and cutaneous melanoma (CM) have different molecular alterations and biological behavior. This review discusses the genetic and epigenetic landscapes of UM, with potential implications for biomarker identification and therapeutic targets.
Article
Chemistry, Analytical
Regina Maria Chiechio, Rosalia Battaglia, Angela Caponnetto, Ester Butera, Giorgia Franzo, Riccardo Reitano, Michele Purrello, Marco Ragusa, Davide Barbagallo, Cristina Barbagallo, Cinzia Di Pietro, Valerie Marchi, Maria Jose Lo Faro, Annalinda Contino, Giuseppe Maccarrone, Paolo Musumeci
Summary: Lanthanide-doped yttrium oxide nanoparticles with selective upconversion properties have significant value in nanomedicine for sensing and diagnostics. Different syntheses of Er:Y2O3 and Nd:Y2O3 nanoparticles were optimized to obtain small particles of regular shape and good crystallinity. The nanoparticles were well dispersed with dimensions of tens of nanometers, and exhibited good emission and upconversion. Pegylation functionalization allowed for biocompatibility, water solubility, and dispersion of the nanoparticles, enabling them to serve as photoactive materials for theragnostics and biosensing.
Review
Psychology, Multidisciplinary
Luigi Vetri, Annamaria Pepi, Marianna Alesi, Agata Maltese, Lidia Scifo, Michele Roccella, Giuseppe Quatrosi, Maurizio Elia
Summary: This study found a strong correlation between Benign Epilepsy with Centro-Temporal Spikes (BECTS) and poor school and academic performance (PSAP). An early onset age and long persistence of seizures are closely associated with PSAP. Good pharmacological control of seizures and remission from the acute phase of the pathology support better school performance. Comprehensive management is essential for individuals with BECTS and PSAP.
BEHAVIORAL SCIENCES
(2023)
Article
Psychology, Multidisciplinary
Luigi Vetri, Michele Roccella, Lucia Parisi, Daniela Smirni, Carola Costanza, Marco Carotenuto, Maurizio Elia
BEHAVIORAL SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Alice Innocenti, Giuliana Lentini, Serena Rapacchietta, Paola Cinnirella, Maurizio Elia, Raffaele Ferri, Oliviero Bruni
Summary: The sleep-wake cycle is regulated by a variety of neurotransmitters, which are in turn influenced by different nutrients. Good sleep quality is crucial for children's development, but an increasing number of children suffer from sleep disorders. Behavioral interventions and supplements, such as iron and antihistamines, are recommended as the first line treatment. This systematic review aims to evaluate the role of key nutrients involved in sleep-regulating pathways and their application in managing pediatric sleep disorders, providing a practical guide for clinicians.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crino, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
Summary: The Italian PWS registry was established to collect clinical and epidemiologic data, assess clinical management, improve patient care, and foster research. It includes six variables and provides important insights into the clinical aspects and natural history of PWS.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Psychiatry
Samuel Perini, Michele Filosi, Enrico Domenici
Summary: This study investigated the role of DNA methylation in the risk of ASD and identified candidate biomarkers related to immune system imbalance and neurogenesis/synaptic organization. The study found that the proportion of NK cells was significantly reduced in ASD siblings and identified differentially methylated regions involved in these processes. The study revealed CLEC11A (near SHANK1) as a potential biomarker for ASD, independently from genotype effects.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Clinical Neurology
Ronit M. Pressler, Nicholas S. Abend, Stephan Auvin, Geraldine Boylan, Francesco Brigo, Maria Roberta Cilio, Linda S. De Vries, Maurizio Elia, Alberto Espeche, Cecil D. Hahn, Terrie Inder, Nathalie Jette, Angelina Kakooza-Mwesige, Silke Mader, Eli M. Mizrahi, Solomon L. Moshe, Lakshmi Nagarajan, Iris Noyman, Magda L. Nunes, Pauline Samia, Eilon Shany, Renee A. Shellhaas, Ann Subota, Chahnez Charfi Triki, Tammy Tsuchida, Kollencheri Puthenveettil Vinayan, Jo M. Wilmshurst, Elissa G. Yozawitz, Hans Hartmann
Summary: Seizures in neonates are common, and the management of neonatal seizures varies significantly. The Neonatal Task Force of the International League Against Epilepsy has developed evidence-based recommendations for the management of antiseizure medication in neonates. These recommendations cover the choice of first-line and second-line medications, control of seizure burden, the use of therapeutic hypothermia, and other considerations.
Article
Biochemistry & Molecular Biology
Cristina Barbagallo, Michele Stella, Stefania Di Mauro, Alessandra Scamporrino, Agnese Filippello, Francesca Scionti, Maria Teresa Di Martino, Michele Purrello, Marco Ragusa, Francesco Purrello, Salvatore Piro
Summary: Diabetes mellitus (DM) is a complex disease characterized by high blood glucose levels. Type 2 Diabetes (T2D) is the most common form, affecting middle-aged or elderly individuals and its incidence is increasing among children and adults. This study analyzed the transcriptome of serum samples from T2D patients and identified a long non-coding RNA (lncRNA) as a potential diagnostic biomarker. The combination of this lncRNA with clinical parameters showed better diagnostic performance than the glycated haemoglobin test. Using this biomarker in clinical practice would improve the diagnosis and management of T2D patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Emanuele G. Coci, Ornella Galesi, Thomas Morgan, Sabrina Giglio, Elsebet Ostergaard, Maurizio Elia
Summary: Neurodevelopmental syndromes caused by copy number variation are well-known in clinical settings. However, there is limited understanding of the unbalanced expression of long noncoding RNAs. This study investigates the clinical consequences of heterozygous deletion of long noncoding RNA AK127244, either isolated or combined with partial NRXN1 deletion, in individuals with nonsyndromic neurodevelopmental delay. The retrospective study analyzes a bicentric cohort of four individuals, including two siblings, with isolated heterozygous deletion in long noncoding RNA AK127244.
CYTOGENETIC AND GENOME RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Mirella Vinci, Carola Costanza, Rosanna Galati Rando, Simone Treccarichi, Salvatore Saccone, Marco Carotenuto, Michele Roccella, Francesco Cali, Maurizio Elia, Luigi Vetri
Summary: This study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the STXBP6 gene. The truncated protein in the STXBP6 gene could negatively modulate the exocytosis of synaptic vesicles.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)