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
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
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
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)
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
Genetics & Heredity
Nicole M. Ralbovsky, Paromita Dey, Andrew Galfano, Bijan K. Dey, Igor K. Lednev
Summary: Duchenne muscular dystrophy (DMD) is a common form of muscular dystrophy that primarily affects males in infancy. Diagnosing DMD currently requires invasive and laborious methods, making early detection difficult. There is a need for a simple and non-invasive method to accurately detect DMD as early as possible.
Article
Physiology
Riku Yoshida, Kazuki Kasahara, Yuta Murakami, Shigeru Sato, Kazunori Nosaka, Masatoshi Nakamura
Summary: This study compared the fatigue profiles of the biceps brachii muscle during repetitive maximal concentric and eccentric contractions, and found that the muscle had greater fatigue resistance during eccentric contractions compared to concentric contractions.
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY
(2023)
Article
Engineering, Biomedical
Kelley M. Virgilio, Brian K. Jones, Emily Y. Miller, Elnaz Ghajar-Rahimi, Kyle S. Martin, Shayn M. Peirce, Silvia S. Blemker
Summary: This study utilized an agent-based model to predict the impact of increased fibrosis on muscle regeneration, and experimentally validated the model-derived hypothesis. The findings suggest that increasing the area fraction of fibrosis alone is not enough to reduce the regenerative capacity of mdx muscle, indicating that fibrosis is a complex pathological condition that requires further understanding.
ANNALS OF BIOMEDICAL ENGINEERING
(2021)
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
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
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
Biochemistry & Molecular Biology
Cody A. Desjardins, Monica Yao, John Hall, Emma O'Donnell, Reshmii Venkatesan, Sean Spring, Aiyun Wen, Nelson Hsia, Peiyi Shen, Ryan Russo, Bo Lan, Tyler Picariello, Kim Tang, Timothy Weeden, Stefano Zanotti, Romesh Subramanian, Oxana Ibraghimov-Beskrovnaya
Summary: The study developed a platform called FORCE that enhances the delivery of phosphorodiamidate morpholino oligomers (PMO) in muscles, enabling exon skipping and dystrophin restoration in patients with muscular dystrophy. FORCE treatment improved functional outcomes compared to unconjugated drugs.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Cell Biology
Anicca D. Harriot, Tessa Altair Morris, Camilo Vanegas, Jacob Kallenbach, Kaylie Pinto, Humberto C. Joca, Marie-Jo Moutin, Guoli Shi, Jeanine A. Ursitti, Anna Grosberg, Christopher W. Ward
Summary: Altered myofibrillar structure is observed in dystrophic pathology and is associated with increased susceptibility to contraction injury. In murine Duchenne muscular dystrophy (mdx), the densification of microtubule arrays enriched in detyrosinated tubulin is implicated in negative disease outcomes. This study demonstrates an early increase in detyrosinated tubulin in mdx muscle and a significant densification of these arrays at later stages of the disease, which co-localize with myofibrillar malformation. The findings suggest that the disease-dependent densification of detyrosinated microtubule arrays contributes to the altered myofibrillar structure in dystrophic skeletal muscle fibers.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
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
F. Sanarica, P. Mantuano, E. Conte, A. Cozzoli, R. F. Capogrosso, A. Giustino, A. Cutrignelli, O. Cappellari, J. F. Rolland, M. De Bellis, N. Denora, G. M. Camerino, A. De Luca
PHARMACOLOGICAL RESEARCH
(2019)
Article
Pharmacology & Pharmacy
Dalila Sahbani, Bice Strumbo, Silvana Tedeschi, Elena Conte, Giulia Maria Camerino, Elisa Benetti, Giovanni Montini, Gabriella Aceto, Giuseppe Procino, Paola Imbrici, Antonella Liantonio
FRONTIERS IN PHARMACOLOGY
(2020)
Article
Pharmacology & Pharmacy
Elena Conte, Adriano Fonzino, Antonio Cibelli, Vito De Benedictis, Paola Imbrici, Grazia Paola Nicchia, Sabata Pierno, Giulia Maria Camerino
FRONTIERS IN PHARMACOLOGY
(2020)
Review
Biochemistry & Molecular Biology
Claudia Camerino
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Nutrition & Dietetics
Paola Mantuano, Gianluca Bianchini, Ornella Cappellari, Brigida Boccanegra, Elena Conte, Francesca Sanarica, Antonietta Mele, Giulia M. Camerino, Laura Brandolini, Marcello Allegretti, Michela De Bellis, Andrea Aramini, Annamaria De Luca
Review
Cell Biology
Ornella Cappellari, Paola Mantuano, Annamaria De Luca
Correction
Medical Laboratory Technology
Antonietta Mele, Paola Mantuano, Michela De Bellis, Francesco Rana, Francesca Sanarica, Elena Conte, Maria Grazia Morgese, Maria Bove, Jean-Francois Rolland, Roberta Francesca Capogrosso, Sabata Pierno, Giulia Maria Camerino, Luigia Trabace, Annamaria De Luca
TRANSLATIONAL RESEARCH
(2020)
Article
Clinical Neurology
Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratu, Jean-Francois Desaphy
FRONTIERS IN NEUROLOGY
(2020)
Article
Pharmacology & Pharmacy
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Antonietta Mele, Giulia Maria Camerino, Francesco Alfredo Zito, Girolamo Ranieri, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico
FRONTIERS IN PHARMACOLOGY
(2020)
Review
Biochemistry & Molecular Biology
Giulia Maria Camerino, Nancy Tarantino, Ileana Canfora, Michela De Bellis, Olimpia Musumeci, Sabata Pierno
Summary: Statins are effective drugs for treating cardiovascular diseases, but can lead to skeletal muscle toxicity which needs risk assessment and study of new biomarkers. Identifying a marker of toxicity is important to prevent or to cure statin induced myopathy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Elena Conte, Alessandra Pannunzio, Paola Imbrici, Giulia Maria Camerino, Lorenzo Maggi, Marina Mora, Sara Gibertini, Ornella Cappellari, Annamaria De Luca, Mauro Coluccia, Antonella Liantonio
Summary: Tubular Aggregate Myopathy (TAM) is a rare hereditary muscle disorder caused by mutations in STIM1 or ORAI1 genes. Patients with TAM exhibit muscle weakness, cramps, and altered Ca2+ homeostasis. Functional characterization of cells from patients with STIM1 L96V mutation revealed abnormalities during differentiation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Elena Conte, Paola Imbrici, Paola Mantuano, Maria Antonietta Coppola, Giulia Maria Camerino, Annamaria De Luca, Antonella Liantonio
Summary: Intracellular Ca2+ ions play a critical role in regulating muscular cellular processes, with Store-operated Ca2+ entry (SOCE) being essential for maintaining muscle structure and function. Alterations in STIM1 and Orai1 proteins can disrupt SOCE, leading to severe muscle function consequences. Therefore, targeting SOCE components could have high therapeutic potential for muscle wasting disorders.
Article
Biochemistry & Molecular Biology
Giorgia Dinoi, Michael Morin, Elena Conte, Hagar Mor Shaked, Maria Antonietta Coppola, Maria Cristina D'Adamo, Orly Elpeleg, Antonella Liantonio, Inbar Hartmann, Annamaria De Luca, Rikard Blunck, Angelo Russo, Paola Imbrici
Summary: Mutations in the KCNA1 gene are associated with various neurological phenotypes. This study functionally characterized a KCNA1 mutant channel and found a correlation between the mutation and clinical symptoms. The study also supported the effectiveness of certain drugs in treating KCNA1-related epilepsy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Antonietta Mele, Paola Mantuano, Brigida Boccanegra, Elena Conte, Antonella Liantonio, Annamaria De Luca
Summary: Ultrasonography is a safe and non-invasive imaging technique used in various medical fields for longitudinal monitoring of disease progression and treatment efficacy. It is commonly used in sports medicine and neuromuscular disorders for detecting skeletal muscle parameters. Recent advancements in high-resolution ultrasound devices have enabled its use in preclinical studies, particularly for echocardiographic assessments lacking specific guidelines for skeletal muscle measurements. This review aims to provide necessary information for independent validation of ultrasound skeletal muscle applications in preclinical studies, to establish standard protocols and reference values for translational research on neuromuscular disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)