Review
Chemistry, Analytical
Rui Su, Tongtong Yang, Xinrui Zhang, Na Li, Xingying Zhai, Huanwen Chen
Summary: Breath analysis is an attractive and non-invasive strategy for monitoring metabolic dynamics in living organisms. Mass spectrometry is a powerful analytical platform for breath analysis, and ambient mass spectrometry has been widely adopted due to its minimal/sample pretreatment requirements. This tutorial review introduces the principles, setup, procedures, applications, and future prospects of mass spectrometry-based techniques for breath analysis, aiming to facilitate further development and application in this field.
TRAC-TRENDS IN ANALYTICAL CHEMISTRY
(2023)
Article
Biochemical Research Methods
Y. Lan Pham, Olaf Holz, Jonathan Beauchamp
Summary: The first and most crucial step in breath research is adequate sampling, which plays a pivotal role in quality assurance of breath datasets. This study investigated emissions and uptake by three interface components, namely a silicon facemask, a reusable 3D-printed mouthpiece adapter, and a pulmonary function test filter compatible with the commercial Respiration Collector for In-Vitro Analysis (ReCIVA) breath sampling device. The filter exhibited the lowest overall emissions compared to the mask or adapter, which both had equivalently high emissions (albeit for different compounds). Treatment of the materials reduced the total VOC emissions by 62% in the mask, 89% in the filter and 99% in the adapter. Uptakes of compounds were lowest for the adapter and most pronounced in the mask. Knowledge of emissions and/or uptake by sampling components is key to reducing the likelihood of erroneous data interpretation, ultimately expediting progress in the field of breath test development.
JOURNAL OF BREATH RESEARCH
(2023)
Article
Chemistry, Multidisciplinary
Ines. C. Weber, Dina. N. Oosthuizen, Rawan. W. Mohammad, Chris. A. Mayhew, Sotiris. E. Pratsinis, Andreas. T. Guentner
Summary: Liver diseases cause millions of deaths each year, and the late diagnosis and insufficient screening techniques are contributing factors. Researchers have developed a compact and low-cost detector for noninvasive and selective detection of breath limonene, which is a promising biomarker for liver disease screening.
Article
Multidisciplinary Sciences
Kayleigh A. R. Rose, Rory P. Wilson, Claudia Ramenda, Hermina Robotka, Martin Wikelski, Emily L. C. Shepard
Summary: This study presents a new method, wake respirometry, for quantifying stress and energetic responses in animals. By placing a sensor in the animal's exhalation airflow, this method can measure fine-scale changes in CO2 concentration and detect changes in the animal's physiological state.
Article
Chemistry, Analytical
Xing Guo, Juan Pu, Jianxiong Dai, Xin Wang, Xinxue Zhang, Yanting Yang, Zhongjun Zhao, Yixiang Duan
Summary: A novel traveling wave ion-molecule reactor (TW-IMR) has been developed to improve the performance of proton-transfer-reaction time-of-flight mass spectrometry (PTR-TOFMS) in online monitoring technologies of volatile organic compounds (VOCs). Compared to traditional IMR, TW-IMR allows the ions to be trapped before entering the TOFMS, resulting in improved LOD and ion transmission efficiency.
JOURNAL OF ANALYTICAL ATOMIC SPECTROMETRY
(2023)
Article
Biochemical Research Methods
Kajsa Roslund, Markku Lehto, Pirkko Pussinen, Markus Metsala
Summary: This study measured the composition of VOCs in the morning breath of 30 healthy individuals before and after tooth brushing. They identified 35 VOCs that significantly decreased in breath after tooth brushing, indicating their microbial origin. Moreover, they compared the concentrations of these VOCs to their odor thresholds and found several compounds, including volatile sulfur compounds, that could contribute to breath odor.
JOURNAL OF BREATH RESEARCH
(2022)
Article
Chemistry, Multidisciplinary
Tunga Salthammer, Uwe Hohm, Marcel Stahn, Stefan Grimme
Summary: Proton transfer reaction mass spectrometry (PTR-MS) is an important tool for indoor related sciences, allowing online monitoring and identification of substance mixtures in the gas phase. Kinetic laws and collision theory are used to quantify and calculate reaction rate constants under different conditions in the reaction chamber. The dipole moment and polarizability of organic compounds frequently found in indoor air were determined using advanced quantum mechanical methods, and their applicability in PTR-MS measurements was critically discussed.
Article
Biochemical Research Methods
Ben Henderson, Gitte Slingers, Michele Pedrotti, Giovanni Pugliese, Michaela Malaskova, Luke Bryant, Tommaso Lomonaco, Silvia Ghimenti, Sergi Moreno, Rebecca Cordell, Frans J. M. Harren, Jochen Schubert, Chris A. Mayhew, Michael Wilde, Fabio Di Francesco, Gudrun Koppen, Jonathan D. Beauchamp, Simona M. Cristescu
Summary: A major challenge in breath research is the lack of standardization in sampling and analysis. The Peppermint Experiment proposed a test utilizing a standardized intervention to explore disparities in breath research across different analytical platforms. The study found large variations in both inter- and intra-dataset, indicating that biological variability plays a key role in the absorption, metabolism, and excretion of compounds in breath.
JOURNAL OF BREATH RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Ben Henderson, Guilherme Lopes Batista, Carlo G. Bertinetto, Joris Meurs, Dusan Materic, Coen C. W. G. Bongers, Neeltje A. E. Allard, Thijs M. H. Eijsvogels, Rupert Holzinger, Frans J. M. Harren, Jeroen J. Jansen, Maria T. E. Hopman, Simona M. Cristescu
Summary: The study demonstrates that analysis of volatile organic compounds (VOCs) in exhaled breath can provide insights into metabolic processes and monitor physiological responses to exercise and medication. The research showcases the potential of breathomics for non-invasive monitoring of human metabolism changes, particularly focusing on gut microbiome activity in relation to exercise and medication use.
Article
Green & Sustainable Science & Technology
Prince Tiwari, Tiantian Wang, Julian Indlekofer, Imad El Haddad, Serge Biollaz, Andre Stephan Henry Prevot, Houssni Lamkaddam
Summary: This study presents an online, real-time measurement of trace contaminants in the cleaning stream of a biogas plant using Vocus proton-transfer-reaction mass spectrometer. More than 300 VOCs and 30 VOSCs were identified in the raw biogas, with dimethyl sulfide being the most dominant VOSC. The VOCUS-PTR-MS technology is shown to be a rapid and accurate tool for monitoring biogas facilities, providing valuable insights into biogas production.
Article
Green & Sustainable Science & Technology
Qu Liang, Zhaoyun Ma, Xun Bao, Wei Xu, Qiangling Zhang, Xue Zou, Chengyin Shen, Yannan Chu
Summary: We developed a mobile shipborne spray inlet proton transfer reaction mass spectrometry (S-SI-PTR-MS) instrument for rapid and on-line detection of volatile organic compounds (VOCs) in surface water. The instrument consists of a shipborne platform, a spray inlet system, a proton transfer reaction mass spectrometer, and geographic information software (GIS). It can monitor water quality in real time and has the potential to assist environmental protection enforcement.
JOURNAL OF CLEANER PRODUCTION
(2023)
Article
Oncology
Jing Li, Yuwei Zhang, Qing Chen, Zhenhua Pan, Jun Chen, Meixiu Sun, Junfeng Wang, Yingxin Li, Qing Ye
Summary: By conducting breath analysis on 2308 participants, a panel of six breath biomarkers was established for lung cancer screening. The model performed well in the training dataset but showed slightly lower performance in the independent validation dataset. The results suggest that breath analysis may serve as a valid method in screening lung cancer in a borderline population prior to hospital visits, although further calibration and validation are needed in a primary care setting.
FRONTIERS IN ONCOLOGY
(2022)
Article
Chemistry, Analytical
Zhenzhen Xie, James D. Morris, Stephanie J. Mattingly, Saurin R. Sutaria, Jiapeng Huang, Michael H. Nantz, Xiao-An Fu
Summary: Analysis of volatile organic compounds (VOCs) in exhaled breath has shown great potential for disease detection. However, analyzing metabolic VOCs in breath is still a challenge. This study presents a method using ultrahigh-performance liquid chromatography coupled with high-resolution mass spectrometry (UHPLC-MS) to analyze a broad range of carbonyl metabolites in breath. The combination of a silicon microreactor for capturing carbonyl compounds and UHPLC-MS analysis may provide a quantitative method for identifying disease markers in exhaled breath.
ANALYTICAL CHEMISTRY
(2023)
Article
Environmental Sciences
Wen-Tzu Liu, Wei-Cheng Liao, Stephen M. Griffith, Chih-Chung Chang, Yue-Chuen Wu, Chieh Heng Wang, Jia-Lin Wang
Summary: This study aimed to develop a technique to chemically characterize odor issues in neighborhoods near industrial zones with high emissions of volatile organic compounds (VOCs). Proton-transfer-reaction mass spectrometry (PTR-MS) was used as a detection tool in the industrial zone to guide in-laboratory analysis of VOCs. The combination of fast but less accurate PTR-MS and slow but accurate GC-MS/FID methods effectively improved the detection process.
Article
Chemistry, Analytical
Xin Geng, Kai Zhang, Hongli Li, David Da Yong Chen
Summary: A robust ambient ionization mass spectrometry method using a modified direct analysis in real time (DART) ion source was developed for online analysis of breath volatiles. The method is fast, simple, versatile, and has the potential to evaluate the true state of human exhaled breath.
Article
Allergy
Stephanie Musiol, Carla P. Harris, Ruth Karlina, Johanna M. Gostner, Birgit Rathkolb, Benjamin Schnautz, Evelyn Schneider, Lisa Mair, Ernesto Elorduy Vergara, Claudia Flexeder, Sibylle Koletzko, Carl-Peter Bauer, Tamara Schikowski, Dietrich Berdel, Andrea von Berg, Gunda Herberth, Jan Rozman, Martin Hrabe de Angelis, Marie Standl, Carsten B. Schmidt-Weber, Siegfried Ussar, Francesca Alessandrini
Summary: This study investigated the association between starch, sucrose, and fat in relation to allergic sensitization and asthma prevalence in humans, as well as their underlying mechanisms using mouse models. The findings suggest that high consumption of digestible carbohydrates is associated with an increased prevalence of asthma in humans and aggravated lung allergic inflammation in mice, involving oxidative stress-related mechanisms.
Article
Biology
Justine Chee, Louise Lanoue, Dave L. Clary, Kendall Higgins, Lynette Bower, Ann Flenniken, Ruolin Guo, David Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, H. -J. Genie Chin, Mary Dickinson, Chih-Wei Hsu, Michael Dobbie, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason Heaney, Yann Herault, Martin Hrabe de Angelis, Fabio Mammano, Lauryl M. J. Nutter, Helen Parkinson, Chuan Qin, Toshi Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, Brian Brooks, Colin McKerlie, K. C. Kent Lloyd, Henrik Westerberg, Ala Moshiri
Summary: This study identified new genes and pathways associated with eye development through screening of mouse genes. These findings provide insights into the molecular and cellular mechanisms of eye development and could potentially contribute to the diagnosis and treatment of congenital blinding diseases.
Article
Biochemistry & Molecular Biology
Grace Png, Raffaele Gerlini, Konstantinos Hatzikotoulas, Andrei Barysenka, N. William Rayner, Lucija Klaric, Birgit Rathkolb, Juan A. Aguilar-Pimentel, Jan Rozman, Helmut Fuchs, Valerie Gailus-Durner, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, Claus Pietrzik, James F. Wilson, Martin Hrabe Angelis, Christoph Becker-Pauly, Arthur Gilly, Eleftheria Zeggini
Summary: In this study, a protein quantitative trait locus (pQTL) analysis was performed on two Greek cohorts, identifying 301 independently associated pQTL variants for 170 proteins related to cardiometabolic processes. The study also discovered rare variants and observed changes in frequency of certain pQTL variants in the isolated populations. Additionally, the study identified proteins causally associated with cardiometabolic traits and described a knock-out Mep1b mouse model.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Lillian Garrett, Dietrich Truembach, Nadine Spielmann, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe De Angelis, Sabine M. Hoelter
Summary: Neuropsychiatric diseases represent a significant global disease burden and require innovative approaches for pathogenic understanding, biomarker identification, and therapeutic strategies. The malfunction of the heart/brain axis, particularly through the autonomic nervous system and brain central autonomic network interaction, plays a crucial role in the etiology of these diseases. This inter-relationship offers potential avenues for novel diagnosis and treatment approaches.
Article
Biochemistry & Molecular Biology
Nadine Spielmann, Christina Schenkl, Timea Komlodi, Patricia da Silva-Buttkus, Estelle Heyne, Jana Rohde, Oana Amarie, Birgit Rathkolb, Erich Gnaiger, Torsten Doenst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Marten Szibor
Summary: Deletion of the Uqcrh gene causes abnormalities in cardiac morphology and contractility in mice, but does not increase the production of mitochondrial reactive oxygen species. This study provides important information for understanding rare mitochondrial disorders.
Article
Biochemistry & Molecular Biology
Patricia da Silva-Buttkus, Nadine Spielmann, Tanja Klein-Rodewald, Christine Schuett, Antonio Aguilar-Pimentel, Oana V. Amarie, Lore Becker, Julia Calzada-Wack, Lillian Garrett, Raffaele Gerlini, Markus Kraiger, Stefanie Leuchtenberger, Manuela A. Oestereicher, Birgit Rathkolb, Adrian Sanz-Moreno, Claudia Stoeger, Sabine M. Hoelter, Claudia Seisenberger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis
Summary: Rare diseases pose challenges in medicine due to their diverse clinical manifestations and low prevalence. The lack of specific treatments for the majority of rare diseases highlights the need for research. Genome sequencing technology allows for the identification of potential disease-causing genes, but further confirmation is required. Mouse knockout models are crucial for studying the genetics of rare diseases and the German Mouse Clinic is a pioneer in this field. Collaboration between research institutions, clinicians, and patient groups is necessary to advance the understanding and treatment of rare diseases.
Article
Cell Biology
Daniel Garger, Martin Meinel, Tamina Dietl, Christina Hillig, Natalie Garzorz-Stark, Kilian Eyerich, Martin Hrabe de Angelis, Stefanie Eyerich, Michael P. P. Menden
Summary: Through studying the association between various phenotypic traits and lifespan, it was found that somatic mutation and resting heart rate are negatively correlated with lifespan, while other traits show strong associations. Resting heart rate enhances the prediction of lifespan, indicating its direct influence or representation of lower-level mechanisms associated with lifespan.
Article
Genetics & Heredity
Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K. G. Tan, Sophie Isabelle Thiffault, Tomi Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Ostergaard, Francisca Undiagnosed Dis Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E. Posey, Richard A. Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabe de Angelis, Sabine M. Hoelter, Hoi-Hung Cheung, Shen Gu, James R. Lupski
Summary: DExD/H-box RNA helicases (DDX/DHX) are part of a large gene family that encodes enzymes and variations in these genes can lead to neurodevelopmental disorders and cancer. By analyzing genetic data, researchers found rare variants in the DHX9 gene in individuals with different disorders ranging from neurodevelopmental disorders to a specific type of polyneuropathy. Further experiments confirmed that DHX9 is important for neurodevelopment and neuronal homeostasis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cell Biology
Jennifer Maurer, Xinjie Zhao, Martin Irmler, Anders Gudiksen, Nanna S. Pilmark, Qi Li, Thomas Goj, Johannes Beckers, Martin Hrabe de Angelis, Andreas L. Birkenfeld, Andreas Peter, Rainer Lehmann, Henriette Pilegaard, Kristian Karstoft, Guowang Xu, Cora Weigert
Summary: Metformin treatment leads to lactate production and secretion, as well as reduced glucose consumption. It inhibits respiratory chain complex I and alters cellular redox state, decreasing pyruvate oxidation. These findings suggest that metformin induces dose-dependent lactate production in skeletal muscle by shifting the equilibrium of lactate dehydrogenase reaction.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Howard T. Jacobs, Marten Szibor, Birgit Rathkolb, Patricia da Silva-Buttkus, Juan Antonio Aguilar-Pimentel, Oana V. Amarie, Lore Becker, Julia Calzada-Wack, Nathalia Dragano, Lillian Garrett, Raffaele Gerlini, Sabine M. Hoelter, Tanja Klein-Rodewald, Markus Kraiger, Stefanie Leuchtenberger, Susan Marschall, Manuela A. Oestereicher, Kristina Pfannes, Adrian Sanz-Moreno, Claudia Seisenberger, Nadine Spielmann, Claudia Stoeger, Wolfgang Wurst, Helmut Fuchs, Martin Hrabe de Angelis, Valerie Gailus-Durner
Summary: The alternative oxidase (AOX) can delay the onset and progression of respiratory-chain diseases, but it does not provide long-term benefit.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Endocrinology & Metabolism
Arvid Sandforth, Reiner Jumpertz von Schwartzenberg, Elsa Vazquez Arreola, Robert L. Hanson, Gencer Sancar, Sarah Katzenstein, Karl Lange, Hubert Preissl, Simon Dreher, Cora Weigert, Robert Wagner, Kostantinos Kantartzis, Fritz Schick, Rainer Lehmann, Andreas Peter, Nikoletta Katsouli, Vasilis Ntziachristos, Corinna Dannecker, Louise Fritsche, Nikolaos Perakakis, Martin Heni, Peter Paul Nawroth, Stefan Kopf, Andreas F. H. Pfeiffer, Stefan Kabisch, Michael Stumvoll, Peter E. H. Schwarz, Hans Hauner, Andreas Lechner, Jochen Seissler, Iryna Yurchenko, Andrea Icks, Michele Solimena, Hans-Ulrich Haering, Julia Szendroedi, Annette Schuermann, Martin Hrabe de Angelis, Matthias Blueher, Michael Roden, Stefan R. Bornstein, Norbert Stefan, Andreas Fritcher, Andreas Birkenfeld
Summary: This study investigates the mechanisms of weight loss-induced remission in people with prediabetes. The results suggest that weight loss can improve insulin sensitivity, reduce visceral adipose tissue, and lower the risk of developing type 2 diabetes. The authors propose that remission of prediabetes should be the primary therapeutic aim.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Meriem Ouni, Fabian Eichelmann, Markus Jaehnert, Christin Krause, Sophie Saussenthaler, Christiane Ott, Pascal Gottmann, Thilo Speckmann, Peter Huypens, Stefan Wolter, Oliver Mann, Martin Hrabe De Angelis, Johannes Beckers, Henriette Kirchner, Matthias B. Schulze, Annette Schuermann
Summary: Better disease management can be achieved by identifying novel epigenetic biomarkers that determine the risk of type 2 diabetes (T2D) at an early stage. This study found that differences in gene expression and DNA methylation in the liver could be used as potential biomarkers for T2D. The downregulation of the HAMP gene, associated with elevated DNA methylation, was identified as a potential early marker for T2D.
MOLECULAR METABOLISM
(2023)
Article
Endocrinology & Metabolism
Leona Kovac, Thomas Goj, Meriem Ouni, Martin Irmler, Markus Jaehnert, Johannes Beckers, Martin Hrabe De Angelis, Andreas Peter, Anja Moller, Andreas L. Birkenfeld, Cora Weigert, Annette Schuermann
Summary: Exercise training can improve glucose tolerance in obese individuals, but some may not respond positively. This study analyzed gene expression and DNA methylation in skeletal muscle of low and high responders to endurance training, identifying differences in gene expression and potential novel markers for intervention success.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Meeting Abstract
Endocrinology & Metabolism
R. Jumpertz von Schwartzenberg, K. Bodis, J. Martin, M. Schon, M. Hrabe de Angelis, N. Perakakis, S. Kabisch, A. Pfeiffer, M. Blueher, J. Szendroedi, N. Stefan, R. Wagner, A. L. Birkenfeld, M. Roden, A. Fritsche
