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
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
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
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
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
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
Physiology
William J. Valentine, Sherif A. Mostafa, Suzumi M. Tokuoka, Fumie Hamano, Natsuko F. Inagaki, Joel Z. Nordin, Norio Motohashi, Yoshihiro Kita, Yoshitsugu Aoki, Takao Shimizu, Hideo Shindou
Summary: In Duchenne muscular dystrophy (DMD), changes in phosphatidylcholine (PC) levels, specifically higher levels of PC 34:1 and lower levels of PC 34:2, are associated with muscle wasting. The study found that PC 34:1 levels were elevated in regenerated mdx muscles, while PC 34:2 levels were also elevated in mdx muscles. Experimental factors such as muscle types, mouse ages, and diets were found to impact the PC alterations.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Angus Lindsay, John Holm, Maria Razzoli, Alessandro Bartolomucci, James M. Ervasti, Dawn A. Lowe
Summary: Research shows that mdx mice do not habituate to mild stress, and daily exposure to mild stress for weeks exacerbates phenotypes associated with dystrophinopathy in mdx mice.
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
Arkady Uryash, Alfredo Mijares, Eric Esteve, Jose A. A. Adams, Jose R. R. Lopez
Summary: Duchenne muscular dystrophy (DMD) is a genetic muscular disorder caused by mutations in the dystrophin gene. This study found anomalous regulation of resting intracellular Ca2+ in vascular smooth muscle cells (VSMCs) from a mouse model of DMD. Hypoxia leads to Ca2+ overload in VSMCs, and the lack of dystrophin makes them more susceptible to this overload.
Article
Biochemistry & Molecular Biology
Olga Mucha, Malgorzata Myszka, Paulina Podkalicka, Bianka Swiderska, Agata Malinowska, Jozef Dulak, Agnieszka Loboda
Summary: This study investigated differentially expressed proteins in the diaphragm of 6-week-old mdx mice, a model for Duchenne muscular dystrophy (DMD), using label-free and tandem mass tag (TMT)-based methods. The comparison of both methods revealed 88 commonly changed proteins. Further analysis showed that 953 proteins significantly changed in dystrophic animals, with 867 increased and 86 decreased in expression. Interestingly, a significant decrease in the expression of enzymes generating hydrogen sulfide (H2S) was found in the dystrophic diaphragm, suggesting a potential role of H2S metabolism in modulating DMD progression.
Article
Materials Science, Multidisciplinary
Giovana Zerbo Martinez, Bruna Alexia Cristofoletti Grillo, Lara Caetano Rocha, Carolina dos Santos Jacob, Jurandyr Pimentel Neto, Andre Neri Tomiate, Gabriela Klein Barbosa, Ii-sei Watanabe, Adriano Polican Ciena
Summary: The study revealed that mdx mice demonstrated extensive impairment in the myotendinous junction (MTJ) region, with shorter sarcomeres, fewer sarcoplasmic projections, and increased deposition of type III collagen.
MICROSCOPY AND MICROANALYSIS
(2021)
Letter
Hematology
Ping Sun, Guangsheng Wu, Rui-Lan Gao, Shengyi Liu, William D. Phillips, Simon X. Liang
BRITISH JOURNAL OF HAEMATOLOGY
(2016)
Article
Neurosciences
Lu Xia, Kwok-Kuen Cheung, Simon S. Yeung, Ella W. Yeung
JOURNAL OF PHYSIOLOGY-LONDON
(2016)
Article
Medicine, General & Internal
Simon S. Yeung, Ella W. Yeung
Article
Medicine, General & Internal
Simon S. Yeung, Kin Hung Ting, Maurice Hon, Natalie Y. Fung, Manfi M. Choi, Juno C. Cheng, Ella W. Yeung
Article
Cardiac & Cardiovascular Systems
Xue-zhe Wang, Rui-lan Gao, Ping Sun, Shengyi Liu, Yang Xu, Damian Ze-guang Liang, Li-ming Yin, William D. Phillips, Simon X. Liang
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2017)
Article
Sport Sciences
Rezvan Mirsafaei Rizi, Simon S. Yeung, Nathan J. Stewart, Ella W. Yeung
JOURNAL OF SCIENCE AND MEDICINE IN SPORT
(2017)
Article
Multidisciplinary Sciences
Marco Morsch, Dario A. Protti, Delfine Cheng, Filip Braet, Roger S. Chung, Stephen W. Reddel, William D. Phillips
SCIENTIFIC REPORTS
(2018)
Article
Physiology
Keng-Ting Sun, Kwok-Kuen Cheung, Shannon W. N. Au, Simon S. Yeung, Ella W. Yeung
FRONTIERS IN PHYSIOLOGY
(2018)
Article
Medicine, Research & Experimental
Yang Xu, Ping Sun, Jian-Yu Wang, Zong-Ze Li, Rui-Lan Gao, Xue-Zhe Wang, William D. Phillips, Simon X. Liang
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2019)
Article
Neurosciences
S. Trajanovska, J. Ban, J. Huang, P. Gregorevic, M. Morsch, Ll G. Allen, W. D. Phillips
JOURNAL OF PHYSIOLOGY-LONDON
(2019)
Review
Sport Sciences
Jill A. Hayden, Maria N. Wilson, Samuel Stewart, Jennifer L. Cartwright, Andrea O. Smith, Richard D. Riley, Maurits van Tulder, Tom Bendix, Francesca Cecchi, Leonardo O. P. Costa, Ninna Dufour, Manuela L. Ferreira, Nadine E. Foster, Maruti R. Gudavalli, Jan Hartvigsen, Pieter Helmhout, Jan Kool, George A. Koumantakis, Francisco M. Kovacs, Tiina Kuukkanen, Audrey Long, Luciana G. Macedo, Luciana A. C. Machado, Chris G. Maher, Wolf Mehling, Giovanni Morone, Tom Peterson, Eva Rasmussen-Barr, Cormac G. Ryan, Tuulikki Sjogren, Rob Smeets, J. Bart Staal, Monica Unsgaard-Tondel, Henry Wajswelner, Ella W. Yeung
BRITISH JOURNAL OF SPORTS MEDICINE
(2020)
Review
Neurosciences
Dengyun Ge, G. Lorenzo Odierna, William D. Phillips
NEUROSCIENCE LETTERS
(2020)
Article
Physiology
Joanne Ban, Besa Beqaj, William D. Phillips
Summary: The study found that injection of MuSK can increase the specific force of muscles in mdx mice, helping to restore healthy muscle growth. This discovery provides a new therapeutic approach for improving muscular dystrophy.
EXPERIMENTAL PHYSIOLOGY
(2021)
Article
Sport Sciences
Ella W. Yeung, Yan-Wing Sin, Sweetie R. Lui, Toni W. T. Tsang, Ka-Wing Ng, Pui-Ka Ma, Simon S. Yeung, Peter Y. Woo, Tracy M. Ma
BMJ OPEN SPORT & EXERCISE MEDICINE
(2018)
Review
Multidisciplinary Sciences
Nazanin Ghazanfari, Sofie Trajanovska, Marco Morsch, Simon X. Liang, Stephen W. Reddel, William D. Phillips
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2018)