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
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Clinical Neurology
Craig M. Zaidman, Crystal M. Proud, Craig M. Mcdonald, Kelly J. Lehman, Natalie L. Goedeker, Stefanie Mason, Alexander P. Murphy, Maitea Guridi, Shufang Wang, Carol Reid, Eddie Darton, Christoph Wandel, Sarah Lewis, Jyoti Malhotra, Danielle A. Griffin, Rachael A. Potter, Louise R. Rodino-Klapac, Jerry R. Mendell
Summary: The study ENDEAVOR demonstrated that the commercial process delandistrogene moxeparvovec is safe and effective in improving micro-dystrophin expression in patients with Duchenne muscular dystrophy. After 12 weeks of treatment, significant improvements were observed in micro-dystrophin expression, as well as patient's functional outcomes and quality of life at 1 year.
ANNALS OF NEUROLOGY
(2023)
Article
Pediatrics
Katherine D. Mathews, Kristin M. Conway, Amber M. Gedlinske, Nicholas Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni, Paul A. Romitti
Summary: This study analyzed clinical trial participation among DMD patients and found that fewer non-Hispanic blacks or Hispanics participated in trials compared to non-Hispanic whites, and trial participants tended to reside in counties with lower percentages of non-Hispanic blacks. Understanding these characteristics is important for identifying participation barriers and generalizing trial results.
Article
Cell & Tissue Engineering
Yuko Nitahara-Kasahara, Mutsuki Kuraoka, Posadas Herrera Guillermo, Hiromi Hayashita-Kinoh, Yasunobu Maruoka, Aki Nakamura-Takahasi, Koichi Kimura, Shin'ichi Takeda, Takashi Okada
Summary: This study demonstrates the potential therapeutic benefits of systemic treatment with dental pulp stem cells (DPSCs) in Duchenne muscular dystrophy (DMD). DPSC-treated animal models showed improved muscle function and locomotor activity with downregulated inflammation. Interestingly, long-term follow-up also revealed maintenance of running capability and stabilized cardiac function after DPSC treatment.
STEM CELL RESEARCH & THERAPY
(2021)
Review
Cell Biology
Elisa Domi, Malvina Hoxha, Emanuela Prendi, Bruno Zappacosta
Summary: Duchenne muscular dystrophy is a muscular disease with no cure, and SIRT1 has been identified as a potential therapeutic target for the condition. Activation of SIRT1 improves muscle function, while its inhibition leads to muscle fragility.
Review
Biochemistry & Molecular Biology
Krzysztof Zablocki, Dariusz C. Gorecki
Summary: Muscular dystrophies are inherited neuromuscular diseases that cause progressive disability and can reduce life expectancy. Loss of dystrophin or mutations in sarcoglycan-encoding genes lead to the loss of a-sarcoglycan ecto-ATPase activity, disrupting purinergic signaling and causing chronic inflammation in dystrophic muscles. Over-activation of P2X7 purinoceptors exacerbates pathology in dystrophic muscle cells. Blocking P2X7 receptors has shown promising results in mouse models and should be considered for the treatment of muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Raphael Porcher, Isabelle Desguerre, Helge Amthor, Brigitte Chabrol, Frederique Audic, Francois Rivier, Arnaud Isapof, Vincent Tiffreau, Emmanuelle Campana-Salort, France Leturcq, Sylvie Tuffery-Giraud, Rabah Ben Yaou, Djillali Annane, Pascal Amedro, Christine Barnerias, Henri Marc Becane, Anthony Behin, Damien Bonnet, Guillaume Bassez, Mireille Cossee, Gregoire de La Villeon, Claire Delcourte, Abdallah Fayssoil, Bertand Fontaine, Francois Godart, Sophie Guillaumont, Emmanuelle Jaillette, Pascal Laforet, Sarah Leonard-Louis, Frederic Lofaso, Michele Mayer, Raul Juntas Morales, Christophe Meune, David Orlikowski, Caroline Ovaert, Helene Prigent, Malika Saadi, Maximilien Sochala, Celine Tard, Guy Vaksmann, Ulrike Walther-Louvier, Bruno Eymard, Tanya Stojkovic, Philippe Ravaud, Denis Duboc, Karim Wahbi
Summary: Prophylactic ACEi treatment in patients with Duchenne muscular dystrophy is associated with significantly higher overall survival and lower rates of hospitalization for heart failure.
EUROPEAN HEART JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Silvia Consalvi, Luca Tucciarone, Elisa Macri, Marco De Bardi, Mario Picozza, Illari Salvatori, Alessandra Renzini, Sergio Valente, Antonello Mai, Viviana Moresi, Pier Lorenzo Puri
Summary: Late-stage mdx FAPs exhibit abnormal HDAC activity and genome-wide alterations of histone acetylation that cannot be fully reversed by HDACi. HDACi show general resistance in inducing H3K9/14 hyperacetylation in late-stage mdx FAPs, but is effective in reducing promoter acetylation and blunting SASP gene activation.
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
Clinical Neurology
Katharine C. Simon, Paola Malerba, Neal Nakra, Amy Harrison, Sara C. Mednick, Marni Nagel
Summary: This study measured slow oscillations in Duchenne and Becker muscular dystrophy male patients and found a significant decline in slow oscillation density with age. When patients were grouped by age, a decline in the rate and amplitude of slow oscillations was observed.
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
Hongshuai Li, Aiping Lu, Xueqin Gao, Ying Tang, Sudheer Ravuri, Bing Wang, Johnny Huard
Summary: DMD patients often suffer from bone abnormalities, and studies have shown that heterochronic parabiosis with young mice can significantly improve bone mass and microstructure in aged dKO-hetero mice, as well as enhance bone defect healing in dKO-homo mice. This suggests that systemic blood-borne factors and/or progenitor cells from young mice may play a positive role in bone health in DMD patients.
Article
Biochemistry & Molecular Biology
Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean Francois Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Beroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Summary: This study found that long noncoding RNAs play important roles in Duchenne and Becker muscular dystrophy, particularly in regulating myocyte proliferation and differentiation with potential therapeutic implications. The research suggests that lncRNA44s2 may serve as an accelerator in muscle differentiation process and is associated with a favorable clinical phenotype.
Article
Clinical Neurology
Daniel B. Simmons, Julie Lanning, James C. Cleland, Araya Puwanant, Paul T. Twydell, Robert C. Griggs, Rabi Tawil, Eric L. Logigian
Editorial Material
Clinical Neurology
Chafic Karam, Robert C. Griggs
Editorial Material
Clinical Neurology
Chafic Karam, Robert C. Griggs
Editorial Material
Clinical Neurology
Chafic Karam, Robert C. Griggs
Article
Multidisciplinary Sciences
Ngoc Ly Ta, Krittalak Chakrabandhu, Sebastien Huault, Anne-Odile Hueber
SCIENTIFIC REPORTS
(2018)
Review
Pediatrics
Qing Ke, Zheng-Yan Zhao, Jerry R. Mendell, Mei Baker, Veronica Wiley, Jennifer M. Kwon, Lindsay N. Alfano, Anne M. Connolly, Catherine Jay, Hanna Polari, Emma Ciafaloni, Ming Qi, Robert C. Griggs, Michele A. Gatheridge
WORLD JOURNAL OF PEDIATRICS
(2019)
Review
Clinical Neurology
Mei Baker, Robert Griggs, Barry Byrne, Anne M. Connolly, Richard Finkel, Lucja Grajkowska, Amanda Haidet-Phillips, Laura Hagerty, Robert Ostrander, Lianna Orlando, Kathryn Swoboda, Michael Watson, R. Rodney Howell
Review
Oncology
Aurelie Rossin, Giorgia Miloro, Anne-Odile Hueber
Letter
Clinical Neurology
Robert C. Griggs, Jerry R. Mendell
Article
Clinical Neurology
Emma Ciafaloni, Fredric Cohen, Robert Griggs
PEDIATRIC NEUROLOGY
(2019)
Editorial Material
Medicine, Research & Experimental
Laurent Gagnoux-Palacios, Anne-Odile Hueber
M S-MEDECINE SCIENCES
(2019)
Article
Biochemistry & Molecular Biology
Raul Gonzalez, Maria A. Rodriguez-Hernandez, Maria Negrete, Kalina Ranguelova, Aurelie Rossin, Carmen Choya-Foces, Patricia de la Cruz-Ojeda, Antonio Miranda-Vizuete, Antonio Martinez-Ruiz, Sergio Rius-Perez, Juan Sastre, Jose A. Barcena, Anne-Odile Hueber, C. Alicia Padilla, Jordi Muntane
Article
Biochemistry & Molecular Biology
Tamas Molnar, Petra Pallagi, Balint Tel, Robert Kiraly, Eszter Csoma, Viktoria Jenei, Zsofia Varga, Peter Gogolak, Anne Odile Hueber, Zoltan Mate, Ferenc Erdelyi, Gabor Szabo, Aladar Pettko-Szandtner, Attila Bacsi, Laszlo Virag, Jozsef Maleth, Gabor Koncz
Summary: Necroptosis is a regulated type of cell death that acts as a backup mechanism when apoptosis is inhibited or absent, and it is associated with the pathogenesis of various diseases and tumor regulation. The research found that Caspase-9 serves as a newly identified regulator of Necroptosis, offering a promising therapeutic target for manipulating the immunological outcome of cell death.
Article
Multidisciplinary Sciences
Khwanthana Grataitong, Sebastien Huault, Charoonroj Chotwiwatthanakun, Pitchanee Jariyapong, Orawan Thongsum, Chidchanok Chawiwithaya, Krittalak Chakrabandhu, Anne-Odile Hueber, Wattana Weerachatyanukul
Summary: The study successfully created three different chimeric MrNV virus-like particles with specificity towards the epidermal growth factor receptor (EGFR) for targeted cancer drug delivery. These chimeric particles demonstrated enhanced binding and internalization abilities specific to EGFR-positive cells, showcasing their potential as nanocontainers for targeted cancer drug delivery.
SCIENTIFIC REPORTS
(2021)
Review
Clinical Neurology
Bas C. Stunnenberg, Joost Berends, Robert C. Griggs, Jeffrey Statland, Gea Drost, Jane Nikles, Hans Groenewoud, Baziel G. M. van Engelen, Wilt Jan van der Gert, Joost Raaphorst
Summary: This study conducted a systematic review of published N-of-1 trials in neurologic disorders, focusing on methodological quality and reporting. Most trials were in neuromuscular and neurodegenerative/movement disorders, with applications in stable chronic conditions and progressive or acute disorders. N-of-1 trials show potential for bridging the gap between research and clinical care by providing a personalized evidence base for suitable treatments.