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
Cardiac & Cardiovascular Systems
Rachel T. Sullivan, Ngoc T. Lam, Margaret Haberman, Margaret J. Beatka, Muhammad Z. Afzal, Michael W. Lawlor, Jennifer L. Strande
Summary: The study found that nicorandil can prevent stress-induced cardiac injury and has a protective effect on cardiomyopathy in mdx mice.
BMC CARDIOVASCULAR DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Paulina Podkalicka, Olga Mucha, Katarzyna Kazirod, Iwona Bronisz-Budzynska, Sophie Ostrowska-Paton, Mateusz Tomczyk, Kalina Andrysiak, Jacek Stepniewski, Jozef Dulak, Agnieszka Loboda
Summary: The study compared angiogenesis-related alterations in mdx mice and wild-type counterparts, revealing different dysregulation of angiogenic factors in mdx mice of different ages; older mdx mice exhibited more significant angiogenic dysfunction.
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)
Review
Neurosciences
Yasumasa Hashimoto, Hiroshi Kuniishi, Kazuhisa Sakai, Yuta Fukushima, Xuan Du, Kunihiko Yamashiro, Kei Hori, Michihiro Imamura, Mikio Hoshino, Mitsuhiko Yamada, Toshiyuki Araki, Hiroyuki Sakagami, Shinichi Takeda, Keiji Itaka, Noritaka Ichinohe, Francesco Muntoni, Masayuki Sekiguchi, Yoshitsugu Aoki
Summary: The study found that mice lacking Dp140 exhibited ASD-like behavior and abnormalities in neural transmission and synaptic function. However, the ASD-like behaviors in mdx52 mice were ameliorated by restoration of Dp140, suggesting a potential therapeutic target for ASD in DMD patients.
PROGRESS IN NEUROBIOLOGY
(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.
Review
Biochemistry & Molecular Biology
Alicja Starosta, Patryk Konieczny
Summary: DMD is a devastating X-linked disease characterized by progressive skeletal muscle wasting and heart dysfunction. Therapeutic strategies involving epigenetic modifications to modulate signal pathways have emerged as promising approaches. Taking a systemic view of DMD as a disease affecting muscle fibers and communication between different cell types may lead to holistic treatments that restore proper signal transmission and gene expression.
CELLULAR AND MOLECULAR LIFE SCIENCES
(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
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
Multidisciplinary Sciences
Maria Sofia Falzarano, Martina Mietto, Fernanda Fortunato, Marianna Farne, Fernanda Martini, Pierpaolo Ala, Rita Selvatici, Francesco Muntoni, Alessandra Ferlini
Summary: This study investigated the transcription dynamics and spatial localization of the dystrophin (DMD) gene in DMD patients. The results showed significantly reduced DMD mRNA amount in the patients' cells and muscle biopsies, with a shift towards localization in the nuclei. This abnormal compartmentalization of mutant DMD mRNA contributes to the poor abundance and availability of dystrophin messenger in the cytoplasm.
SCIENTIFIC REPORTS
(2023)
Article
Psychology, Multidisciplinary
Rahul Tyagi, Harshita Arvind, Manoj Goyal, Akshay Anand, Manju Mohanty
Summary: The neuropsychological profile of Indian DMD subjects is not well understood and requires evaluation. Results show poor verbal and visual memory profiles in DMD patients, with working memory deficits being a crucial element of cognitive functioning. Working memory interventions may help improve neuropsychological profiles in DMD cases.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Physiology
Rachele Rossi, Maria Sofia Falzarano, Hana Osman, Annarita Armaroli, Chiara Scotton, Paola Mantuano, Brigida Boccanegra, Ornella Cappellari, Elena Schwartz, Anton Yuryev, Eugenio Mercuri, Enrico Bertini, Adele D'Amico, Marina Mora, Camilla Johansson, Cristina Al-Khalili Szigyarto, Annamaria De Luca, Alessandra Ferlini
Summary: Duchenne muscular dystrophy (DMD) is a rare genetic disease causing progressive weakness and muscle wasting due to dystrophin gene mutations. Circadian rhythm plays a key role in maintaining muscle functions and the study identified CSNK1E, SIRT1, and MYOG as potential circadian biomarkers in DMD patients.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Olga Mucha, Katarzyna Kazirod, Paulina Podkalicka, Kinga Rusin, Jozef Dulak, Agnieszka Loboda
Summary: This study investigates the role of heme oxygenase-1 (HO-1) in the regulation of autophagy and mitophagy in a mouse model of Duchenne muscular dystrophy (DMD). It is found that HO-1 may alleviate the symptoms of DMD through its anti-inflammatory properties. The study also reveals complex and age-dependent dysregulation of autophagic and mitophagic markers in DMD mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Ursula Moore, Heather Gordish, Jordi Diaz-Manera, Meredith K. James, Anna G. Mayhew, Michela Guglieri, Roberto Fernandez-Torron, Laura E. Rufibach, Jia Feng, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebell, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Linda Pax Lowes, Jerry R. Mendell, Kate Bushby, Volker Straub
Summary: This study aimed to determine clinically relevant phenotypic differences between LGMDR2 and MMD1 in dysferlinopathy. However, the analysis showed that there is no clinically relevant difference in proximal vs distal muscle involvement between the two diagnoses, indicating that dysferlinopathies do not form distinct phenotypic groups. Additionally, a geographical preference for specific diagnoses was observed, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA.
NEUROMUSCULAR DISORDERS
(2021)
Article
Health Care Sciences & Services
Stefan Pszczolkowski, William J. Cottam, Paul M. Briley, Sarina J. Iwabuchi, Catherine Kaylor-Hughes, Abdulrhman Shalabi, Ben Babourina-Brooks, Adam Berrington, Shaun Barber, Ana Suazo Di Paola, Andrew Blamire, R. Hamish McAllister-Williams, Jehill Parikh, Mohamed Abdelghani, Lars Matthaeus, Ralf Hauffe, Peter Liddle, Dorothee P. Auer, Richard Morriss
Summary: This study aims to compare the clinical effectiveness, cost-effectiveness, and mechanism of action between standard treatment repetitive TMS (rTMS) and a newer treatment called theta burst stimulation (TBS) in patients with treatment-resistant depression. The study also aims to identify functional and neurochemical brain signatures indexing the treatment mechanisms of both rTMS and TBS, as well as imaging-based markers that predict treatment response. Magnetic resonance imaging (MRI) is used to guide TMS targets, with additional imaging sequences for mechanistic evaluation. Recruitment for the study began in January 2019 and is ongoing, with data collection expected to continue until January 2023.
JMIR RESEARCH PROTOCOLS
(2022)
Article
Clinical Neurology
Ursula Moore, Roberto Fernandez-Torron, Marni Jacobs, Heather Gordish-Dressman, Jordi Diaz-Manera, Meredith K. James, Anna G. Mayhew, Elizabeth Harris, Michela Guglieri, Laura E. Rufibach, Jia Feng, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Linda Pax Lowes, Jerry R. Mendell, Kate Bushby, John Bourke, Volker Straub
Summary: This study aimed to determine whether respiratory or cardiac dysfunction is part of the dysferlinopathy phenotype. Objective measures of respiratory and cardiac function were collected in 188 genetically confirmed patients. The results showed clinically significant respiratory impairment and abnormal atrial conduction in some patients. Therefore, regular assessment of respiratory and cardiac function is recommended for these patients.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Andrew M. Blamire, Linda Heskamp, Julie Hall, Roger Whittaker
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Geriatrics & Gerontology
Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araujo, Ian Wilson, Roberto Fernandez-Torron, Meredith K. James, Ursula R. Moore, Jordi Diaz-Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean-Marc Boisserie, Julien Le Louer, Heather Hilsden, Helen Sutherland, Aurelie Canal, Jean-Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, Anna Mayhew, Volker Straub, Pierre G. Carlier, Andrew M. Blamire
Summary: This multi-center study demonstrated that quantitative MRI/P-31 MRS measurements can detect significant changes in lower limb skeletal muscles of dysferlinopathy patients over a 3-year period. These findings can serve as reference values for future clinical trials and comparisons with other limb-girdle muscular dystrophy subtypes.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Clinical Neurology
Linda Heskamp, Alexis R. Miller, Matthew G. Birkbeck, Julie Hall, Ian S. Schofield, Andrew M. Blamire, Roger G. Whittaker
Summary: This study used MRI to assess the in-vivo cross-sectional and 3D morphology of human motor units in hand, forearm, and lower leg muscles. The results showed no significant differences in the size and morphology of motor units among these muscles, and the 3D imaging revealed a more complex structure of human motor units than previously thought.
CLINICAL NEUROPHYSIOLOGY
(2022)
Article
Clinical Neurology
Chris Patrick Pflanz, Marco S. Egle, John T. O'Brien, Robin G. Morris, Thomas R. Barrick, Andrew M. Blamire, Gary A. Ford, Daniel Tozer, Hugh S. Markus
Summary: In cerebral small vessel disease, brain network analysis may serve as a sensitive surrogate marker in clinical trials. Measures of brain network efficiency may be more sensitive to the effects of blood pressure control treatment than conventional DTI metrics.
Article
Medicine, Research & Experimental
Jessica Tarn, Evelyn Evans, Emmanuella Traianos, Alexis Collins, Mryto Stylianou, Jehill Parikh, Yang Bai, Yu Guan, James Frith, Dennis Lendrem, Victoria Macrae, Iain McKinnon, Bruce S. Simon, Justyna Blake, Mark R. Baker, John Paul Taylor, Stuart Watson, Peter Gallagher, Andrew Blamire, Julia Newton, Wan-Fai Ng
Summary: This experimental medicine study investigates the relationship between noninvasive stimulation of the vagus nerve (nVNS) and fatigue in Primary Sjogren's syndrome (PSS). The results show that nVNS significantly improves fatigue symptoms in PSS patients.
Article
Geriatrics & Gerontology
Ursula Moore, Ericky Caldas de Almeida Araujo, Harmen Reyngoudt, Heather Gordish-Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz-Manera
Summary: In limb girdle muscular dystrophies, T2H2O mapping can be used as a prognostic tool to identify changes in muscle function over time. A higher T2H2O at baseline is associated with a greater decline on functional tests, suggesting that inter-patient differences in functional decline may be explained by differences in the severity of muscle damage.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Immunology
Fiona Cooke, Mary Neal, Matthew J. Wood, I. Jolanda M. de Vries, Amy E. E. Anderson, Julie Diboll, Arthur . G. G. Pratt, James Stanway, Ioana Nicorescu, Nicholas Moyse, Dawn Hiles, David Caulfield, Anne. M. M. Dickinson, Andrew. M. M. Blamire, Pete Thelwall, John . D. D. Isaacs, Catharien M. U. Hilkens
Summary: Tolerogenic dendritic cell (tolDC) therapies aim to restore self-tolerance in patients with autoimmune diseases. This study tested the suitability of using nanoparticles containing F-19 for labeling therapeutic human tolDC for detection through F-19-MRI. The results showed that F-19-NP is a suitable imaging agent for tolDC and does not affect their function.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Ursula Moore, Esther Fernandez-Simon, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub
Summary: This study assessed the roles of serum myostatin and follistatin concentrations in dysferlinopathy as monitoring or prognostic biomarkers. The results showed that myostatin correlated with muscle function and MRI measurements, while its changes over three years did not correlate with functional or MRI changes. Linear modeling demonstrated that function, serum creatine kinase, and C-reactive protein were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation, but not the rate of change in functional or MRI measures. Overall, myostatin does not appear to be a promising treatment target in dysferlinopathy.
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Laura Llanso, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Volker Straub, Jordi Diaz-Manera
Summary: In this study, the muscle imaging and clinical features of a subgroup of Dysferlinopathy patients were analyzed. It was found that approximately 63% of the patients did not meet the established imaging criteria, and 13% of them were considered as outliers with distinct clinical characteristics.
NEUROMUSCULAR DISORDERS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Matthew G. Birkbeck, Linda Heskamp, Ian S. Schofield, Julie Hall, Avan A. Sayer, Roger G. Whittaker, Andrew M. Blamire
Summary: This study used phase contrast MU MRI to measure the contraction and relaxation times of the anterior compartment in a group of healthy adults. The results showed that age and sex have a significant effect on the contraction and relaxation times. Females had significantly longer contraction times than males.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Jose G. Raya, Alejandra Duarte, Nian Wang, Valentina Mazzoli, Diego Jaramillo, Andrew M. M. Blamire, Olaf Dietrich
Summary: Diffusion-weighted imaging (DWI) is a well-established MRI technique for investigating tissue microstructure. Musculoskeletal tissues, with their highly ordered structure, are an ideal application for DWI. However, there are specific challenges in acquiring DWI data for musculoskeletal applications. This review provides an overview of the technical aspects of DWI acquisition and discusses its applications in various musculoskeletal tissues.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Clinical Neurology
Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernandez, Scott Holsten, Chikako Sakamoto, Aurelie Canal, Nieves Sanchez-Aguilera Praxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Diaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub
Summary: The study aimed to identify suitable PROMs and investigate their associations with motor performance in patients with Dysferlinopathy. The results showed that selected PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing Dysferlinopathy.
FRONTIERS IN NEUROLOGY
(2022)