Article
Medicine, Research & Experimental
Sebastian Virreira Winter, Ozge Karayel, Maximilian T. Strauss, Shalini Padmanabhan, Matthew Surface, Kalpana Merchant, Roy N. Alcalay, Matthias Mann
Summary: The article presents a mass spectrometry-based proteomic workflow for urinary proteome profiling as a valuable strategy for biomarker discovery and patient stratification in Parkinson's disease (PD). The study found significant differences in urinary proteome between PD patients and healthy controls, as well as between LRRK2 G2019S carriers and non-carriers, with lysosomal dysregulation in LRRK2 G2019S mutation carriers. When combined with machine learning, the urinary proteome data alone could effectively classify mutation status and disease manifestation in PD patients.
EMBO MOLECULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Mingming Xu, Hong Jin, Zhen Wu, Ying Han, Jing Chen, Chengjie Mao, Piliang Hao, Xumin Zhang, Chun-Feng Liu, Shuang Yang
Summary: This study used glycoproteomics methods to analyze the glycans, glycosites, and intact glycopeptides of serum in Parkinson's disease. Potential biomarkers for the disease were found and associated proteins with specific N-glycosylation changes were identified.
ACS CHEMICAL NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Carmen Pena-Bautista, Lourdes Alvarez-Sanchez, Ines Ferrer, Marina Lopez-Nogueroles, Antonio Jose Canada-Martinez, Camille Oger, Jean-Marie Galano, Thierry Durand, Miguel Baquero, Consuelo Chafer-Pericas
Summary: Alzheimer's Disease (AD) is a common neurodegenerative disease in aging populations, with complex diagnosis usually performed in advanced stages. Plasma isoprostanoids may serve as useful biomarkers for preclinical diagnosis of AD, as shown in the study, but further validation is warranted.
Review
Medicine, General & Internal
Bo-Young Youn, Youme Ko, Seunghwan Moon, Jinhee Lee, Seung-Gyu Ko, Jee-Young Kim
Summary: This scoping review investigated the progress of digital biomarkers in neuromuscular disorders, summarizing a total of 10 relevant studies including observational studies and one animal study. The focus was on patients with ALS, DMD, and SMA, emphasizing the exploration of feasibility and reliability of digital biomarkers.
Article
Endocrinology & Metabolism
Yuanye Jiang, Xiaoyu Zhuang, Jiaqi Zhang, Meng Li, Shengnan Du, Jiyun Tian, Yifu Yuan, Guang Ji, Cheng Hu
Summary: This study investigated the clinical and proteomic characteristics of lean individuals with NAFLD, and found that they exhibit distinct clinical profiles compared to overweight individuals with NAFLD. Plasma proteomic profiling revealed potential biomarkers with diagnostic value for lean NAFLD. These proteins are primarily involved in lipid metabolism, immune and complement systems, and platelet degranulation.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Chemistry, Multidisciplinary
Xiaoxiao Wang, Xinran Hao, Jie Yan, Ji Xu, Dandan Hu, Fenfen Ji, Ting Zeng, Fuyue Wang, Bolun Wang, Jiacheng Fang, Jing Ji, Hemi Luan, Yanjun Hong, Yanhao Zhang, Jinyao Chen, Min Li, Zhu Yang, Doudou Zhang, Wenlan Liu, Xiaodong Cai, Zongwei Cai
Summary: Parkinson's disease (PD) is a complex neurological disorder that worsens with age. Metabolomics can identify disease biomarkers through the evaluation of urine metabolites. In this study, a predictive model based on metabolomic data and machine learning techniques achieved an accuracy of over 90.7% in distinguishing PD patients from healthy individuals using an 8-metabolite panel. PD patients had higher levels of certain metabolites and lower levels of others in their urine compared to control subjects. The developed prediction model can serve as a starting point for future clinical studies.
CHINESE CHEMICAL LETTERS
(2023)
Article
Clinical Neurology
Alexandrine Mahoudeau, Celine Anquetil, Nozomu Tawara, Hossein Khademian, Damien Amelin, Lois Bolko, Marco Silvestro, Julian Dal Cin, Berenice Tendrel, Virginie Tardif, Kuberaka Mariampillai, Gillian Butler-Browne, Olivier Benveniste, Yves Allenbach
Summary: This study found that myostatin protein and RNA levels are decreased in patients with idiopathic inflammatory myopathies (IIM), and the protein levels correlate with disease activity. In inactive patients with antisynthetase syndrome (ASyS) and dermatomyositis (DM), myostatin levels are higher than in active patients. However, in immune-mediated necrotising myopathies (IMNM), myostatin levels do not significantly increase after disease remission, suggesting a new pathological mechanism in IMNM patients.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Medical Laboratory Technology
Ximeng Chen, Jianan Wang, Jinyang Wang, Jingyun Ye, Ping Di, Chang Dong, Hong Lei, Chengbin Wang
Summary: This study utilized proteomics to analyze serum proteins and identify potential biomarkers for the diagnosis of osteoarticular tuberculosis. ITIH2, CFHR2, CFHR3, and CFHR5 were found to be potential biomarkers, with CFHR2 and CFHR3 showing good diagnostic efficacy when combined in a diagnostic model.
CLINICA CHIMICA ACTA
(2023)
Review
Biochemistry & Molecular Biology
Ekenedirichukwu N. Obi, Daniel A. Tellock, Gabriel J. Thomas, Timothy D. Veenstra
Summary: The recent developments in mass spectrometry (MS) have provided new opportunities in biomarker discovery and diagnostics, particularly in analyzing clinical samples at a deeper level. While most developments have focused on blood, there is potential in utilizing archived formalin-fixed paraffin-embedded (FFPE) tissues, which were previously considered difficult to analyze using proteomics techniques. Researchers have developed methods to extract proteins from FFPE tissues, allowing for their analysis using state-of-the-art technologies like MS and protein arrays. This review discusses the history of these developments and their current applications in identifying biomarkers and diagnosing diseases such as cancer.
Article
Medicine, Research & Experimental
Qingbo Shu, Shan Liu, Tonino Alonzi, Sylvia M. LaCourse, Dhiraj Kumar Singh, Duran Bao, Dalton Wamalwa, Li Jiang, Christopher J. Lyon, Grace John-Stewart, Deepak Kaushal, Delia Goletti, Tony Hu
Summary: Using mass spectrometry (MS) to read immunoassays for biomarker-derived peptides can improve sensitivity and specificity, allowing for better identification of tuberculosis cases and differentiation between disease and asymptomatic infection. This approach shows strong potential for infectious disease diagnosis and monitoring changes in Mycobacterium tuberculosis burden for more effective disease control.
Article
Gastroenterology & Hepatology
Josef Ecker, Elisa Benedetti, Alida S. D. Kindt, Marcus Hoering, Markus Perl, Andrea Christel Machmueller, Anna Sichler, Johannes Plagge, Yuting Wang, Sebastian Zeissig, Andrej Shevchenko, Ralph Burkhardt, Jan Krumsiek, Gerhard Liebisch, Klaus-Peter Janssen
Summary: Analysis of the CRC lipidome revealed a robust TG-species signature with prognostic potential, shedding light on the importance of lipid metabolism abnormalities in CRC.
Review
Immunology
Shudi Guo, Ming Tian, Yunping Fan, Xiangyang Zhang
Summary: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a complex and heterogeneous disease diagnosed through endoscopy and computed tomography, and treated with glucocorticoid or surgery. Proteomics and metabolomics have shown potential in elucidating the mechanisms underlying CRSwNP using mass spectrometry as a powerful tool. Recent advances in non-invasive samples, exosomes, and metabolomics research have paved the way for further understanding of CRSwNP.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Andrea Barp, Amanda Ferrero, Silvia Casagrande, Roberta Morini, Riccardo Zuccarino
Summary: The urgent need for new therapies for devastating neuromuscular diseases has led to an intense search for new potential biomarkers, which can be diagnostic, prognostic, or therapeutic. Circulating biomarkers, such as antibodies and microRNAs, are easier to access than instrumental/invasive ones, but face challenges in terms of variability, stability, and reliable performance metrics.
Review
Microbiology
Jiubiao Guo, Ximeng Zhang, Xinchun Chen, Yi Cai
Summary: Researchers are utilizing proteomics technology to discover new biomarkers for tuberculosis diagnosis, and while some progress has been made, challenges and uncertainties still remain.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Hans-Wolfgang Klafki, Oliver Wirths, Brit Mollenhauer, Thomas Liepold, Petra Rieper, Hermann Esselmann, Jonathan Vogelgsang, Jens Wiltfang, Olaf Jahn
Summary: Neurochemical biomarkers can aid in the diagnosis of Alzheimer's disease, and the A beta-3-40/A beta 1-42 ratio in blood plasma can accurately predict cerebral amyloid-beta pathology. The presence of A beta-3-40 and A beta-3-38 in human cerebrospinal fluid has been confirmed, and the ratio of CSF A beta-3-40/A beta 42 appears to be increased in individuals with amyloid-beta PET-positive results.
JOURNAL OF NEUROCHEMISTRY
(2022)
Article
Clinical Neurology
Conrad C. Weihl, Ana Topf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Dominguez-Gonzalez, Abdulaziz Alsaman, Aurelio Hernandez-Lain, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olive, Gianina Ravenscroft, Volker Straub
Summary: This article reports a novel chaperonopathy associated with the DNAJB4 gene, causing muscle weakness and early respiratory failure. Loss of DNAJB4 function may lead to the accumulation of its client proteins, resulting in muscle dysfunction and degeneration.
ACTA NEUROPATHOLOGICA
(2023)
Article
Biotechnology & Applied Microbiology
Karen Anthony, Pierpaolo Ala, Francesco Catapano, Jinhong Meng, Joana Domingos, Mark Perry, Valeria Ricotti, Kate Maresh, Lauren C. C. Phillips, Laurent Servais, Andreea M. M. Seferian, Silvana De Lucia, Imelda de Groot, Yvonne D. D. Krom, J. G. M. Verschuuren, Erik H. H. Niks, Volker Straub, Michela Guglieri, Thomas Voit, Jennifer Morgan, Francesco Muntoni
Summary: Duchenne muscular dystrophy (DMD) is a genetic disorder caused by the lack of dystrophin protein. Some patients with DMD have rare fibers that express dystrophin. The muscle pathology of DMD includes inflammation and immune cell infiltration. Strategies to restore dystrophin expression in DMD patients include exon skipping and gene therapy. However, restoring dystrophin may trigger T cell-mediated immune responses in patients, which can affect treatment efficacy and lead to adverse events. A study on pediatric boys with DMD found that approximately 8% of patients had pre-existing T cell-mediated immune responses to dystrophin, despite steroid treatment. This information is important for considering immunological baseline before clinical trials and future studies on DMD.
HUMAN GENE THERAPY
(2023)
Article
Clinical Neurology
Ursula Moore, Esther Fernandez-Simon, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub
Summary: This study assessed the roles of serum myostatin and follistatin concentrations in dysferlinopathy as monitoring or prognostic biomarkers. The results showed that myostatin correlated with muscle function and MRI measurements, while its changes over three years did not correlate with functional or MRI changes. Linear modeling demonstrated that function, serum creatine kinase, and C-reactive protein were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation, but not the rate of change in functional or MRI measures. Overall, myostatin does not appear to be a promising treatment target in dysferlinopathy.
NEUROMUSCULAR DISORDERS
(2023)
Correction
Medicine, General & Internal
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anais Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Article
Health Policy & Services
Anando Sen, Avril Palmeri, Joanne Lee, Victoria Hedley, Jacques Thuet, Perrine Lignon, Valerie Cotonnec, Rebecca Leary, Sinead Nally, Volker Straub
Summary: The c4c consortium was established to support the development of drugs and therapies for pediatric populations, and address challenges in pediatric clinical trials. Interviews with four industry partners revealed challenges in data standards and maintenance of data dictionaries, particularly in pediatric-specific terminology and lab range. To address these gaps, c4c is collaborating with CDISC to develop a cross-cutting pediatric dictionary and user guide.
INTERNATIONAL JOURNAL OF HEALTH PLANNING AND MANAGEMENT
(2023)
Article
Genetics & Heredity
Rebecca L. Poole, Mihaly Badonyi, Alison Cozens, Nicola Foulds, Joseph A. Marsh, Shamima Rahman, Alison Ross, Joanna Schooley, Volker Straub, Alan J. Quigley, David FitzPatrick, Anne Lampe
Summary: NEDVIBA is a neurodevelopmental disorder characterized by visual defects and brain anomalies, caused by de novo missense HK1 variants. This study describes four additional patients with de novo missense HK1 variants and integrates their phenotypic data with previously reported cases to improve our understanding of the associated phenotype. The findings provide further evidence for the association between de novo HK1 variants in the regulatory-terminal domain and alpha helix and neurological and visual problems. The study also highlights new associations with elevated cerebrospinal fluid lactate, specific abnormalities in the basal ganglia on brain magnetic resonance imaging, and respiratory and swallowing/feeding difficulties.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Mayowa O. Owolabi, Matilde Leonardi, Claudio Bassetti, Joke Jaarsma, Tadeusz Hawrot, Akintomiwa I. Makanjuola, Rajinder K. Dhamija, Wuwei Feng, Volker Straub, Jennifer Camaradou, David W. Dodick, Rosita Sunna, Bindu Menon, Claire Wright, Chris Lynch, Antonella Santuccione Chadha, Maria Teresa Ferretti, Anna De, Coriene E. Catsman-Berrevoets, Muthoni Gichu, Cristina Tassorelli, David Oliver, Walter Paulus, Ramla K. Mohammed, Augustina Charway-Felli, Kevin Rostasy, Valery Feigin, Audrey Craven, Elizabeth Cunningham, Orla Galvin, Alexandra Heumber Perry, Ericka L. Fink, Peer Baneke, Anne Helme, Joanna Laurson-Doube, Marco T. Medina, Juan David Roa, Birgit Hogl, Allan O'Bryan, Claudia Trenkwalder, Jo Wilmshurst, Rufus O. Akinyemi, Joseph O. Yaria, David C. Good, Volker Hoemberg, Paul Boon, Samuel Wiebe, J. Helen Cross, Magali Haas, Inez Jabalpurwala, Marijeta Mojasevic, Monica DiLuca, Paola Barbarino, Stephanie Clarke, Sameer M. Zuberi, Paul Olowoyo, Ayomide Owolabi, Nelson Oyesiku, Pia C. Maly-Sundgren, Bo Norrving, Surjo R. Soekadar, Pieter A. van Doorn, Richard Lewis, Tom Solomon, Franco Servadei
Summary: The global burden of neurological disorders is substantial, especially in low-resource settings. The World Health Organization's new global action plan on epilepsy and other neurological disorders provides an opportunity to rethink the delivery of neurological services and propose pragmatic solutions to enhance neurological health. The neurological quadrangle, consisting of surveillance, prevention, acute care, and rehabilitation, is a new framework that aims to provide equitable and effective services for neurological disorders worldwide.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Clinical Neurology
Willem De Ridder, Geert de Vries, Kristof Van Schil, Tine Deconinck, Vincent Mouly, Volker Straub, Jonathan Baets
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Ursula Moore, Sarah Shira Emmons, Laura Rufibach, V Straub, Jordi Diaz-Manera, Michela Guglieri
Summary: This study assessed the impact of functional status and specific diagnosis on patient reported pregnancy and birth outcomes in 26 genetic neuromuscular diseases. The results showed that women with neuromuscular conditions experienced higher rates of miscarriage, caesarean delivery, and instrumental vaginal delivery compared to the general population. Falls occurred during 42% of pregnancies and a deterioration in muscle strength during 43%. Women with neuromuscular conditions have a more complex antenatal and perinatal course than unaffected women.
NEUROMUSCULAR DISORDERS
(2023)
Review
Clinical Neurology
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz-Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas P. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Summary: Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder that affects the autophagy pathway, leading to myopathy, bone diseases, and neurodegeneration. There is currently no consensus-based guideline for the treatment of VCP myopathy. An initiative by Cure VCP Disease Inc. has developed a set of provisional recommendations for the management of VCP myopathy through online surveys, literature review, and expert consultations.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Correction
Clinical Neurology
Jorge Alonso-Perez, Lidia Gonzalez-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andres Nascimento, Carlos Ortez, Giacomo Pietro Comi, Leroy ten Dam, Marianne De Visser, A. J. van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuss, Nicoline Lokken, Jesper Helbo Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, Bjarne Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sarkozy, Omar Abdel-Mannan, Alicia Alonso-Jimenez, Kristl G. Claeys, David Gomez-Andres, Francina Munell, Laura Costa-Comellas, Jana Haberlova, Marie Rohlenova, De Vos Elke, Jan L. De Bleecker, Cristina Dominguez-Gonzalez, Giorgio Tasca, Claudia Weiss, Nicolas Deconinck, Roberto Fernandez-Torron, Adolfo Lopez de Munain, Ana Camacho-Salas, Bela Melegh, Kinga Hadzsiev, Lea Leonardis, Blaz Koritnik, Matteo Garibaldi, Juan Carlos de Leon-Hernandez, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Diaz-Manera