Article
Genetics & Heredity
Bertrand Chesneau, Marion Aubert-Mucca, Felix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Helene Dollfus, Josseline Kaplan, Lucas Fares-Taie, Jean-Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlene Rio, Tania Attie-Bitach, Cecile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent-Delorme, Odile Boute, Clemence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenael Le Guyader, Guylene Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton-Perez, Laurence Bouneau, Cedric Le Caignec, Veronique Gaston, Claire Jeanton-Scaramouche, Delphine Dupin-Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancie
Summary: Peters' anomaly is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. In this study, genetic defects involving 12 genes and copy number variations were identified in a cohort of Peters' anomaly patients. B3GLCT and PAX6 were the most frequently implicated genes, and SOX2 was unexpectedly found to be associated with Peters' anomaly for the first time, providing new evidence for its role in corneal transparency and anterior segment development.
Article
Cell Biology
Lori L. Scarpa, Brad Wanken, Marten Smidt, Ralph E. Mistlberger, Andrew D. Steele
Summary: Pitx3(ak) mice have dysfunctional retina and fewer dopamine neurons in the substantia nigra. They lack entrainment of circadian rhythms to light-dark cycles but show no impairment in circadian organization of metabolism with free food access or entrainment of metabolic and behavioral rhythms by daily feeding schedules.
Article
Plant Sciences
Juliet Nnenda Olayinka, Raymond Iduojemu Ozolua, Abigail Mebu Akhigbemen
Summary: The aqueous leaf extract of Blighia sapida contains bioactive compounds such as chlorogenic acid, saponins, tannins, and quercetin. It exhibited analgesic properties in mice, specifically inhibiting acetic acid-induced writhing and formalin-induced paw licking pain in the inflammatory phase. The analgesic activity of the extract is mediated by peripheral mechanisms rather than central mechanisms.
JOURNAL OF ETHNOPHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Lucie Valek, Bao Ngoc Tran, Irmgard Tegeder
Summary: The study found that nucleoredoxin (NXN) plays an important role in regulating thermal sensation and nociception. The loss of NXN in neurons leads to increased sensitivity to cold temperature and heightened heat nociception in mice. These abnormal responses are associated with changes in calcium influx, mitochondrial dysfunction, and increased density of neurite trees in sensory neurons.
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Medicine, Research & Experimental
Z. Zhang, M. A. Engel, E. Koch, P. W. Reeh, M. Khalil
Summary: The herbal combination Menthacarin has been shown to induce calcium influx in sensory neurons, macrophages, and colonic organoids, potentially contributing to its clinical desensitizing effects in patients with FGIDs. Additionally, repeated applications of Menthacarin lead to desensitization of calcium responses in sensory neurons and colonic organoids.
Article
Biology
Li Gao, Shasha Cui, Zhiqiang Huang, Hailong Cui, Tahani Awad Alahmadi, Velu Manikandan
Summary: The study demonstrated that butein significantly reduces pain perception and inflammatory responses in mice, showing inhibitory effects on pain and inflammation.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Pharmacology & Pharmacy
Indiara Brusco, Allisson Benatti Justino, Cassia Regina Silva, Rahisa Scussel, Ricardo Andrez Machado-de-Avila, Sara Marchesan Oliveira
Summary: Fibromyalgia is a chronic disease characterized by widespread pain, with mechanisms involving kinins and their receptors. ACE inhibitors can enhance pain symptoms by blocking peptide degradation and boosting kinin receptors signaling. In mice, ACE inhibitors enhanced mechanical allodynia induced by reserpine and this effect was prevented by kinin receptor antagonists.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Article
Environmental Sciences
Yudong Xu, Huihui Hong, Xiqin Lin, Tong Tong, Jingjing Zhang, Haotian He, Lingling Yang, Gaofeng Mao, Rongrong Hao, Ping Deng, Zhengping Yu, Huifeng Pi, Yong Cheng, Zhou Zhou
Summary: This study revealed that perturbed sphingomyelin lipid metabolism is related to the pathogenesis of Parkinsonism and Cd neurotoxicity, partially compensated for the deficiency in particular metabolic biomarkers for Parkinsonism in relation to Cd exposure, and emphasized the necessity of reducing Cd exposure at the population level.
ENVIRONMENTAL POLLUTION
(2023)
Article
Pharmacology & Pharmacy
Susana Barbosa Mendez, Maura Matus-Ortega, Ricardo Hernandez Miramontes, Alberto Salazar-Juarez
Summary: The study found that the M-TT vaccine does not affect the antinociceptive effects induced by morphine or the ability of non-opioid and synthetic opioid drugs to decrease thermal pain. Furthermore, the combination of vaccination and naloxone can increase the time-course of morphine antagonism compared to using either vaccination or naloxone alone.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Article
Pharmacology & Pharmacy
Rob Hill, Julie Sanchez, Laura Lemel, Mirjana Antonijevic, Yselkla Hosking, Shailesh N. Mistry, Andrew C. Kruegel, Jonathan A. Javitch, J. Robert Lane, Meritxell Canals
Summary: This study evaluated the effects of three novel opioids on respiratory depression and analgesia, and compared these measurements with their in vitro efficacy. The results showed that these opioids can induce respiratory depression and analgesia at certain doses, but there are differences in potency and duration of effect among the novel opioids.
BRITISH JOURNAL OF PHARMACOLOGY
(2023)
Article
Chemistry, Medicinal
Ketlyn P. da Motta, Carolina C. Martins, Vanessa M. Macedo, Beatriz F. dos Santos, Nelson Luis De C. Domingues, Cristiane Luchese, Ethel A. Wilhelm
Summary: The study examined the effectiveness of MTDZ in alleviating PTX-induced peripheral neuropathy and its impact on various pathways. The results showed that MTDZ reduced mechanical and thermal sensitivities induced by PTX and modulated multiple pain-related pathways. Additionally, MTDZ reduced NOx levels and modulated Ca2+-ATPase activity.
Article
Food Science & Technology
Jose Roberto Santin, Mainara Adriane Tesser Kopp, Thiago Patricio Correa, Jessica Melato, Larissa Benvenutti, Roberta Nunes, Fernanda Capitanio Goldoni, Yasmin Beatrisse Klein Patel, Jade Andre de Souza, Suzany Hellen da Silva Soczek, Elizabeth Soares Fernandes, Maria Veronica Davila Pastor, Luiz Carlos Klein Junior, Miriam Anders Apel, Amelia Teresinha Henriques, Nara Lins Meira Quinta
Summary: This study analyzed the chemical composition of commercially available ostrich oil and evaluated its toxicological effects. The results showed that chronic consumption of ostrich oil caused liver damage and neuroinflammation in mice, as well as increased sensitivity and behavioral changes. There was no evidence of anti-inflammatory or pain-relieving effects. Therefore, the use of ostrich oil for treating human illnesses lacks scientific support.
FOOD AND CHEMICAL TOXICOLOGY
(2023)
Article
Pharmacology & Pharmacy
Fernanda Tibolla Viero, Patricia Rodrigues, Julia Maria Frare, Nathaly Andrighetto Ruviaro Da Silva, Marcella de Amorim Ferreira, Ana Merian Da Silva, Gabriele Cheiran Pereira, Juliano Ferreira, Micheli Mainardi Pillat, Guilherme Vargas Bocchi, Romina Nassini, Pierangelo Geppetti, Gabriela Trevisan
Summary: This study investigated the effects of sound stress on nociception and anxiety-related symptoms in mice. The results showed that sound stress led to alterations in pain sensitivity, anxiety-like symptoms, and exploratory behavior, with a more pronounced effect in female mice. Furthermore, these changes were alleviated by blocking CGRP receptors, and an increase in plasma inflammatory cytokines and CGRP levels was observed in stressed mice, with higher levels in female mice.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Behavioral Sciences
Paloma T. Birmann, Micaela Domingues, Angela M. Casaril, Thiago A. Smaniotto, Daniela Hartwig, Raquel G. Jacob, Lucielli Savegnago
Summary: In this study, it was found that SePy reversed anxiety behavior, hyperalgesia, and mechanical allodynia induced by acute restraint stress in mice while modulating oxidative stress and neuroendocrine responses.
BEHAVIOURAL BRAIN RESEARCH
(2021)
Article
Neurosciences
Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomas R. Guilarte
Summary: Studies in Slc39a14-KO mice as a preclinical model of dystonia-Parkinsonism in SLC39A14 mutation carriers show elevated blood and brain metal concentrations similar to the human disease, with impaired locomotor activity and motor coordination. The dysfunction in dopamine release in the striatum suggests involvement of other neuronal systems and brain regions in the pathophysiology of the disease.
NEUROBIOLOGY OF DISEASE
(2021)
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
Elena E. E. Wolf, Anne Steglich, Friederike Kessel, Hannah Kroeger, Jan Sradnick, Simone Reichelt-Wurm, Kathrin Eidenschink, Miriam C. C. Banas, Eckhard Wolf, Ruediger Wanke, Florian Gembardt, Vladimir T. T. Todorov
Summary: PLVAP serves as an early marker of glomerular endothelial injury in diabetic kidney disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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
Cell Biology
Valerie Pauly, Julia Vlcek, Zhihao Zhang, Nora Hesse, Ruibing Xia, Julia Bauer, Simone Loy, Sarah Schneider, Simone Renner, Eckhard Wolf, Stefan Kaeaeb, Dominik Schuettler, Philipp Tomsits, Sebastian Clauss
Summary: Atrial fibrillation (AF) is a common arrhythmia caused by myocardial ischemia/infarction (MI). Men have a higher prevalence of AF, while women have a higher risk of new onset AF after MI. The impact of sex on AF pathophysiology is largely unknown. In pigs with/without ischemic heart failure (IHF), both male and female pigs showed increased vulnerability to AF. Male pigs had more and longer AF episodes, while female pigs had sinus node dysfunction.
Article
Biology
Esther Stroo, Leen Janssen, Olga Sin, Wytse Hogewerf, Mirjam Koster, Liesbeth Harkema, Sameh A. Youssef, Natalie Beschorner, Anouk H. G. Wolters, Bjorn Bakker, Lore Becker, Lilian Garrett, Susan Marschall, Sabine M. Hoelter, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Amanth Thathiah, Floris Foijer, Bart van de Sluis, Jan van Deursen, Matthias Jucker, Alain de Brun, Ellen A. A. Nollen
Summary: In age-related neurodegenerative diseases, disease-specific proteins form amyloid-like deposits. Depletion of SERF proteins can ameliorate this process. However, it is unknown whether SERF modifies amyloid pathology in mammalian brain.
LIFE SCIENCE ALLIANCE
(2023)
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
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
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