Article
Immunology
Brigida Boccanegra, Ornella Cappellari, Paola Mantuano, Daniela Trisciuzzi, Antonietta Mele, Lisamaura Tulimiero, Michela De Bellis, Santa Cirmi, Francesca Sanarica, Alessandro Giovanni Cerchiara, Elena Conte, Ramona Meanti, Laura Rizzi, Elena Bresciani, Severine Denoyelle, Jean-Alain Fehrentz, Gabriele Cruciani, Orazio Nicolotti, Antonella Liantonio, Antonio Torsello, Annamaria De Luca
Summary: Growth hormone secretagogues (GHSs) have multiple actions including activation of GHS-receptor 1a, control of inflammation and metabolism, enhancement of GH/IGF-1-mediated myogenesis, and inhibition of angiotensin-converting enzyme. This study provides preclinical evidence for the potential benefits of GHSs in Duchenne muscular dystrophy (DMD). The results show that GHSs can improve muscle strength, reduce fibrosis-related parameters, and improve muscle metabolism in mdx mice, suggesting that GHSs have potential as therapeutic agents for DMD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Marco Ponzetti, Argia Ucci, Antonio Maurizi, Luca Giacchi, Anna Teti, Nadia Rucci
Summary: The study found that Lcn2 plays a significant role in DMD, with its overexpression being associated with bone loss. Ablating Lcn2 can reduce bone loss and improve muscle function, making it a potential therapeutic target for treating DMD-induced bone loss.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Rekha Balakrishnan, Satvik Mareedu, Gopal J. Babu
Summary: The reduction or elimination of sarcolipin (SLN) expression improves muscle metabolism, reduces oxidative stress, improves muscle pathology, and protects mdx mice from glucose intolerance in the Duchenne muscular dystrophy (DMD) mouse model.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Multidisciplinary Sciences
Michael Ziemba, Molly Barkhouse, Kitipong Uaesoontrachoon, Mamta Giri, Yetrib Hathout, Utkarsh J. Dang, Heather Gordish-Dressman, Kanneboyina Nagaraju, Eric P. Hoffman
Summary: Duchenne muscular dystrophy is caused by dystrophin deficiency, leading to downstream pathophysiological pathways that drive disability. Dystrophin replacement strategies may trigger these pathways, so combination therapies targeting multiple downstream pathways are crucial. Blood biomarkers could be used to assess drug combinations for treating DMD in both mouse models and human studies.
Article
Biochemistry & Molecular Biology
Yusuke Kawamura, Tetsuro Hida, Bisei Ohkawara, Masaki Matsushita, Takeshi Kobayashi, Shinya Ishizuka, Hideki Hiraiwa, Satoshi Tanaka, Mikito Tsushima, Hiroaki Nakashima, Kenyu Ito, Shiro Imagama, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno
Summary: The anti-histamine drug meclozine promotes the proliferation and survival of human myogenic progenitor cells but inhibits myotube formation. In a mouse model of muscular dystrophy, meclozine improves muscle mass, exercise performance, and reduces ERK1/2 phosphorylation.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Matteo Giovarelli, Francesca Arnaboldi, Silvia Zecchini, Laura Brigida Cornaghi, Ambra Nava, Michele Sommariva, Emilio Giuseppe Ignazio Clementi, Nicoletta Gagliano
Summary: This study provides a comprehensive histological and molecular characterization of muscle fibrosis in Duchenne muscular dystrophy (DMD), showing that fibrosis mainly affects the diaphragm and quadriceps with higher collagen cross-linking and inhibition of MMPs. These findings may lead to new targeted therapeutic interventions for DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Xiangyu Chu, Juan Li, Chunping Qiao, Jing Wang, Yiqing Wang, Xian-Cheng Jiang, Hongbo You, Xiao Xiao, Bing Wang
Summary: This study demonstrated the long-term effectiveness of human mini-dystrophin in improving the pathology and functions of dystrophic muscles in a transgenic DMD mouse model. The expression of human mini-dystrophin in skeletal muscles led to improved muscle morphology, reduced central nuclei, enhanced myofiber membrane integrity, and increased treadmill running and grip force. Additionally, tetanic force and specific force of the TA muscle were significantly increased, indicating the therapeutic benefits of long-term human mini-dystrophin expression.
Article
Neurosciences
Ken D. O'Halloran, Michael N. Maxwell, Anthony L. Marullo, Chantelle P. Hamilton, Sean C. Murchu, David P. Burns, Conor M. Mahony, Aoife D. Slyne, Sarah E. Drummond
Summary: Despite diaphragm weakness, peak inspiratory performance is preserved in young dystrophin-deficient mdx mice due to compensation by extra-diaphragmatic muscles. However, loss of compensation in advanced dystrophic disease leads to compromised respiratory system function.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Biochemistry & Molecular Biology
Keryn G. Woodman, Chantal A. Coles, Shireen R. Lamande, Jason D. White
Summary: Resveratrol at a lower dosage showed potential efficacy in reducing muscle damage and inflammatory cell markers associated with Duchenne muscular dystrophy, suggesting it as a candidate drug for treating DMD.
Article
Biochemistry & Molecular Biology
Nathalie Bourg, Ai Vu Hong, William Lostal, Abbass Jaber, Nicolas Guerchet, Guillaume Tanniou, Fanny Bordier, Emilie Bertil-Froidevaux, Christophe Georger, Nathalie Daniele, Isabelle Richard, David Israeli
Summary: Duchenne muscular dystrophy (DMD) is a common and incurable muscle genetic disease, and therapeutic approaches have focused on restoring dystrophin expression. However, the efficacy of this treatment is still unsatisfactory, potentially due to unresolved technical issues and the progressive nature of DMD. Recent research has identified abnormalities in the mevalonate pathway and cholesterol metabolism in DMD patients, which can be improved by simvastatin treatment. This study investigated the additive beneficial effect of dystrophin restoration and simvastatin treatment, but no additional benefit was observed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Laetitia Marcadet, Emma Sara Juracic, Nasrin Khan, Zineb Bouredji, Hideo Yagita, Leanne M. Ward, A. Russell Tupling, Anteneh Argaw, Jerome Frenette
Summary: Cardiomyopathy is a leading cause of death in DMD patients. Inhibition of RANKL-RANK interaction improves muscle and bone functions in mdx mice. Anti-RANKL treatment prevents cardiac hypertrophy and dysfunction by inhibiting NF-κB and PI3K pathways.
Article
Pharmacology & Pharmacy
Malgorzata Myszka, Olga Mucha, Paulina Podkalicka, Urszula Wasniowska, Jozef Dulak, Agnieszka Loboda
Summary: This study investigated the effects of hydrogen sulfide (H2S) on muscle pathology in dystrophin-deficient mice. The results showed that H2S reduced muscle damage markers, decreased oxidative stress, regulated the expression of disease-related molecules, and promoted angiogenesis. These findings suggest that H2S could be a promising therapeutic factor for Duchenne muscular dystrophy (DMD).
EUROPEAN JOURNAL OF PHARMACOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Agnese Bonato, Giada Raparelli, Siro Luvisetto, Flavia Forconi, Marianna Cosentino, Felice Tirone, Emanuele Rizzuto, Maurizia Caruso
Summary: We found that cyclin D3-null mice exhibit a shift towards oxidative muscle fibers and improved endurance in response to exercise, as well as enhanced response to fasting. In a model of Duchenne muscular dystrophy (DMD), cyclin D3-deficient mice displayed a higher proportion of oxidative fibers, reduced muscle degeneration/regeneration, and reduced muscle fatigue. This suggests that depletion of cyclin D3 may be a promising therapeutic strategy against DMD.
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Biochemistry & Molecular Biology
Paola Mantuano, Brigida Boccanegra, Elena Conte, Michela De Bellis, Santa Cirmi, Francesca Sanarica, Ornella Cappellari, Ilaria Arduino, Annalisa Cutrignelli, Angela Assunta Lopedota, Antonietta Mele, Nunzio Denora, Annamaria De Luca
Summary: The study showed that a new oral DAS/HP-beta-CD complex efficiently distributed in mdx mice plasma and tissues in a dose-related fashion, reducing beta-DG phosphorylation and restoring its levels dose-dependently in both diaphragm and gastrocnemius muscle. However, although there was modest improvement in in vivo neuromuscular function, ex vivo muscle force, and histopathology, there was partial recovery of muscle elasticity and a decrease of CK and LDH plasma levels, suggesting an increased sarcolemmal stability of dystrophic muscles. Further research is needed to understand the limitations of DAS effectiveness in dystrophic settings and its potential synergy with dystrophin-based molecular therapies.
Article
Multidisciplinary Sciences
Annelie Shami, Anki Knutsson, Pontus Duner, Uwe Rauch, Eva Bengtsson, Christoffer Tengryd, Vignesh Murugesan, Madeleine Durbeej, Isabel Goncalves, Jan Nilsson, Anna Hultgardh-Nilsson
SCIENTIFIC REPORTS
(2015)
Article
Multidisciplinary Sciences
Kinga I. Gawlik, Madeleine Durbeej
SCIENTIFIC REPORTS
(2015)
Article
Clinical Neurology
M. Saunier, C. G. Bonnemann, M. Durbeej, V. Allamand
NEUROMUSCULAR DISORDERS
(2016)
Article
Multidisciplinary Sciences
Bernardo Moreira Soares Oliveira, Madeleine Durbeej, Johan Holmberg
Article
Multidisciplinary Sciences
Kinga I. Gawlik, Johan Holmberg, Martina Svensson, Mikaela Einerborg, Bernardo M. S. Oliveira, Tomas Deierborg, Madeleine Durbeej
SCIENTIFIC REPORTS
(2017)
Article
Biochemistry & Molecular Biology
Kinga Gawlik, Vahid M. Harandi, Rachel Y. Cheong, Asa Petersen, Madeleine Durbeej
Article
Pathology
Zandra Korner, Cibely C. Fontes-Oliveira, Johan Holmberg, Virginie Carmignac, Madeleine Durbeej
AMERICAN JOURNAL OF PATHOLOGY
(2014)
Article
Biochemical Research Methods
Bruno Menezes de Oliveira, Cintia Y. Matsumura, Cibely C. Fontes-Oliveira, Kinga I. Gawlik, Helena Acosta, Patrik Wernhoff, Madeleine Durbeej
MOLECULAR & CELLULAR PROTEOMICS
(2014)
Article
Multidisciplinary Sciences
Zandra Korner, Madeleine Durbeej
Article
Multidisciplinary Sciences
Cibely C. Fontes-Oliveira, Maarten Steinz, Peter Schneiderat, Hindrik Mulder, Madeleine Durbeej
SCIENTIFIC REPORTS
(2017)
Article
Multidisciplinary Sciences
Cibely C. Fontes-Oliveira, Bernardo M. Soares Oliveira, Zandra Korner, Vahid M. Harandi, Madeleine Durbeej
SCIENTIFIC REPORTS
(2018)
Article
Multidisciplinary Sciences
Dwi U. Kemaladewi, Prabhpreet S. Bassi, Steven Erwood, Dhekra Al-Basha, Kinga I. Gawlik, Kyle Lindsay, Elzbieta Hyatt, Rebekah Kember, Kara M. Place, Ryan M. Marks, Madeleine Durbeej, Steven A. Prescott, Evgueni A. Ivakine, Ronald D. Cohn
Article
Multidisciplinary Sciences
Kinga Gawlik, Zandra Korner, Bruno M. Oliveira, Madeleine Durbeej
SCIENTIFIC REPORTS
(2019)
Review
Neurosciences
Kinga I. Gawlik, Madeleine Durbeej
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2020)
Article
Biochemistry & Molecular Biology
Vahid M. Harandi, Bernardo Moreira Soares Oliveira, Valerie Allamand, Ariana Friberg, Cibely C. Fontes-Oliveira, Madeleine Durbeej