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
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
Alexander B. Andre, Liqiang Zhang, Jalen D. Nix, Nora Elmadbouly, Alexandra R. Lucas, Jeanne Wilson-Rawls, Alan Rawls
Summary: Duchenne muscular dystrophy is a rare disease that affects males and current treatment options have serious side effects. A study suggests that a new immune-modulating protein called Pegylated Serp-1 can improve inflammation and fibrosis, potentially providing a new therapeutic approach for Duchenne muscular dystrophy.
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
Geriatrics & Gerontology
Dengqiu Xu, Sijia Li, Lu Wang, Jingwei Jiang, Lei Zhao, Xiaofei Huang, Zeren Sun, Chunjie Li, Lixin Sun, Xihua Li, Zhenzhou Jiang, Luyong Zhang
Summary: This study found that TAK1 activation worsens fibrosis and muscle degeneration, while TAK1 inhibition can improve muscle quality and function, providing a potential new therapeutic approach for DMD.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Medicine, Research & Experimental
Yan Wang, Yanfeng Xiao, Yanyan Zheng, Le Yang, Dong Wang
Summary: In this study, it was found that ADAMTS1 levels were increased in mdx mice lacking dystrophin and DMD patients. Treatment with anti-ADAMTS1 improved muscle function, reduced muscle fibrosis, and enhanced muscle strength in mdx mice. This suggests that ADAMTS1 may be a potential target for developing new biological therapies for DMD.
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
Biochemistry & Molecular Biology
Pierre Meyer, Cecile Notarnicola, Albano C. Meli, Stefan Matecki, Gerald Hugon, Jeremy Salvador, Mirna Khalil, Leonard Feasson, Claude Cances, Jerome Cottalorda, Isabelle Desguerre, Jean-Marie Cuisset, Pascal Sabouraud, Alain Lacampagne, Hugues Chevassus, Francois Rivier, Gilles Carnac
Summary: The study highlights the role of RYR1-mediated Ca2+ leakage in human DMD myotubes and suggests that RYR1 stabilization may be a promising therapeutic strategy for DMD. The findings indicate that impaired myogenic differentiation in DMD is associated with altered RYR1-mediated Ca2+ release and suggests a potential relationship between RYR1 dysfunction and motor impairment in patients with DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Viktorija Cernisova, Ngoc Lu-Nguyen, Jessica Trundle, Shan Herath, Alberto Malerba, Linda Popplewell
Summary: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease that primarily affects newborn males. Gene addition therapy using adeno-associated viral vectors has shown significant improvement in muscle function and prevention of fibrosis in a relevant animal model of DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Biochemistry & Molecular Biology
Sharon Mordechay, Shaun Smullen, Paul Evans, Olga Genin, Mark Pines, Orna Halevy
Summary: The study showed that the enantiomers of halofuginone had differential effects on motor coordination and muscle histopathology in mdx mice, with (+)-halofuginone being the most effective. These findings suggest a potential use for (+)-halofuginone as a therapy for DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
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)
Review
Cell Biology
Shanshan Yao, Zihao Chen, Yuanyuan Yu, Ning Zhang, Hewen Jiang, Ge Zhang, Zongkang Zhang, Baoting Zhang
Summary: Duchenne muscular dystrophy is a lethal neuromuscular disorder caused by the absence of dystrophin protein, with no cure currently available. The standard of care involves glucocorticoids treatments for symptom relief. Therapeutic strategies focus on restoring dystrophin function and targeting downstream pathological changes like inflammation and fibrosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(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.
Article
Cell & Tissue Engineering
Patrizia Pessina, Yacine Kharraz, Merce Jardi, So-ichiro Fukada, Antonio L. Serrano, Eusebio Perdiguero, Pura Munoz-Canoves
Article
Biochemistry & Molecular Biology
Kerstin W. Sinkevicius, Kelly J. Bellaria, Juliana Barrios, Patrizia Pessina, Manav Gupta, Christine Fillmore Brainson, Roderick T. Bronson, Carla F. Kim
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2018)
Editorial Material
Biochemistry & Molecular Biology
Carolina Garcia-de-Alba, Patrizia Pessina, Carla F. Kim
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Maria Jose Acuna, Patrizia Pessina, Hugo Olguin, Daniel Cabrera, Carlos P. Vio, Michael Bader, Pura Munoz-Canoves, Robson A. Santos, Claudio Cabello-Verrugio, Enrique Brandan
HUMAN MOLECULAR GENETICS
(2014)
Review
Cell Biology
Yacine Kharraz, Joana Guerra, Christopher J. Mann, Antonio L. Serrano, Pura Munoz-Canoves
MEDIATORS OF INFLAMMATION
(2013)
Article
Cell Biology
Patrizia Pessina, Daniel Cabrera, Maria Gabriela Morales, Cecilia A. Riquelme, Jaime Gutierrez, Antonio L. Serrano, Enrique Brandan, Pura Munoz-Canoves
Article
Multidisciplinary Sciences
S. P. Rowbotham, F. Li, A. F. M. Dost, S. Louie, B. P. Marsh, P. Pessina, C. R. Anbarasu, C. F. Brainson, S. J. Tuminello, A. Lieberman, S. Ryeom, T. M. Schlaeger, B. J. Aronow, H. Watanabe, K. K. Wong, C. F. Kim
NATURE COMMUNICATIONS
(2018)
Article
Multidisciplinary Sciences
Kristen T. Leeman, Patrizia Pessina, Joo-Hyeon Lee, Carla F. Kim
SCIENTIFIC REPORTS
(2019)
Article
Oncology
Manav Gupta, Carla P. Concepcion, Caroline G. Fahey, Hasmik Keshishian, Arjun Bhutkar, Christine F. Brainson, Francisco J. Sanchez-Rivera, Patrizia Pessina, Jonathan Y. Kim, Antoine Simoneau, Margherita Paschini, Mary C. Beytagh, Caroline R. Stanclift, Monica Schenone, D. R. Mani, Chendi Li, Audris Oh, Fei Li, Hai Hu, Angeliki Karatza, Roderick T. Bronson, Alice T. Shaw, Aaron N. Hata, Kwok-Kin Wong, Lee Zou, Steven A. Carr, Tyler Jacks, Carla F. Kim
Article
Biochemical Research Methods
Yacine Kharraz, Vera Lukesova, Antonio L. Serrano, Adam Davison, Pura Munoz-Canoves
Summary: Autofluorescence is an intrinsic characteristic of cells that can affect flow cytometric studies. This research presents a methodology using full spectrum cytometry to treat autofluorescence as a fluorochrome and separate it from other fluorochromes. The method can be applied to complex inflamed tissues.
Article
Medicine, Research & Experimental
Konstantinos-Dionysios Alysandratos, Carolina Garcia-de-Alba, Changfu Yao, Patrizia Pessina, Jessie Huang, Carlos Villacorta-Martin, Olivia T. Hix, Kasey Minakin, Claire L. Burgess, Pushpinder Bawa, Aditi Murthy, Bindu Konda, Michael F. Beers, Barry R. Stripp, Carla F. Kim, Darrell N. Kotton
Summary: This study compared the transcriptomes of primary adult human AEC2s, their cultured progeny, and human induced pluripotent stem cell-derived AEC2s, and found that each population has a distinct transcriptomic space, with cultured AEC2s showing similarities and differences from freshly purified cells. The study also discovered an inverse relationship between proliferative and maturation states across each cell type. Additionally, it was found that cultures of both types of human AEC2s did not generate alveolar type 1 cells, but a subset of induced pluripotent stem cell-derived AEC2s acquired a transitional cell state when co-cultured with fibroblasts.
Article
Genetics & Heredity
Yacine Kharraz, Anne Lefort, Frederick Libert, Christopher J. Mann, Cyril Gueydan, Veronique Kruys