Article
Biochemistry & Molecular Biology
Elizabeth M. Gibbs, Jackie L. McCourt, Kara M. Shin, Katherine G. Hammond, Jamie L. Marshall, Rachelle H. Crosbie
Summary: The dystrophin-glycoprotein complex (DGC) plays a crucial role in maintaining sarcolemmal stability, and its loss in Duchenne muscular dystrophy (DMD) can lead to progressive muscle damage. Utrophin (UTRN) is upregulated in dystrophic muscle and partially compensates for the absence of dystrophin. However, additional loss of sarcospan (SSPN) in dystrophin-deficient mice can worsen disease progression. Overexpression of utrophin can improve muscle function, but the role of SSPN in maintaining therapeutic levels of utrophin at the sarcolemma is crucial.
HUMAN MOLECULAR GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Luana Toniolo, Giuseppe Sirago, Nicola Fiotti, Emiliana Giacomello
Summary: A growing number of disorders are caused by mutations in the vesicular transport machinery, specifically in the Golgi Complex (GC). The GC is crucial for the organization and function of the early secretory pathway, and alterations in its form and function contribute to several disorders, including muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Yu Zhang, Takahiko Nishiyama, Eric N. Olson, Rhonda Bassel-Duby
Summary: Muscular dystrophies are a group of neuromuscular disorders with genetic causes that lead to muscle loss and degeneration. The CRISPR/Cas system offers a new path for treatment, potentially correcting genetic mutations permanently and benefiting skeletal muscle due to its post-mitotic and multinucleated features. However, challenges remain for translating CRISPR/Cas genome editing into a viable therapy for muscular dystrophies.
EXPERIMENTAL CELL RESEARCH
(2021)
Review
Medicine, General & Internal
Camille Bouchard, Jacques P. Tremblay
Summary: This review article presents 39 genes associated with limb-girdle muscular dystrophies (LGMDs), which can be inherited dominantly or recessively. The classification of LGMDs has evolved over time and now requires a mutation causing proximal muscle weakness found in multiple unrelated families. The article also discusses available and developing therapies for LGMDs, aiming to address the root cause of the disease instead of treating individual symptoms.
JOURNAL OF CLINICAL MEDICINE
(2023)
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.
Review
Physiology
Addeli Bez Batti Angulski, Nora Hosny, Houda Cohen, Ashley A. Martin, Dongwoo Hahn, Jack Bauer, Joseph M. Metzger
Summary: Duchenne muscular dystrophy (DMD) is a severe and fatal disease characterized by muscle wasting, respiratory insufficiency, and cardiomyopathy. The dystrophin gene plays a central role in the pathogenesis of DMD, with the muscle membrane and associated proteins being key components. This review examines the pathophysiology of DMD, current therapeutic strategies, and ongoing clinical trials for the treatment of this devastating disease.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Clinical Neurology
Lais U. Aivazoglou, Julio B. Guimaraes, Maria Alice F. Costa, Andre Yui Aihara, Fabiano N. Cardoso, Wladimir B. V. De R. Pinto, Paulo Victor S. de Souza, Andre M. S. da Silva, Edmar Zanoteli, Acary S. B. Oliveira, Alzira A. S. Carvalho, Artur Da R. C. Fernandes
Summary: This study aimed to correlate MRI findings with functional scores and describe the WBMRI pattern in a Brazilian cohort of LGMDR1 patients. The results showed that the involvement of paraspinal muscles, including the lumbar erector spinae, was more severe in these patients, with a striped appearance present in approximately 72% of them. There was a positive correlation between MRI scores and functional scores. The study suggests that WBMRI can provide a comprehensive evaluation of LGMDR1 patients and may be useful for diagnostic and outcome measure selection in clinical trials.
Article
Biotechnology & Applied Microbiology
Danielle A. Griffin, Eric R. Pozsgai, Kristin N. Heller, Rachael A. Potter, Ellyn L. Peterson, Louise R. Rodino-Klapac
Summary: The study tested the therapeutic efficacy of a self-complementary AAVrh74 vector in sgca(-/-) mice modeling LGMD2D/R3, showing successful improvement in muscle function, histopathology, and locomotor activity. The gene therapy approach was deemed safe and effective for potential clinical application.
HUMAN GENE THERAPY
(2021)
Review
Clinical Neurology
Issa Alawneh, Ana Stosic, Hernan Gonorazky
Summary: This article discusses the study of limb girdle muscle dystrophies (LGMDs) using muscle magnetic resonance imaging (MRI) for diagnosis and understanding of the disease. A systematic review found that muscle MRI patterns have been described for 15 out of 17 types of LGMDs. Despite the challenging diagnosis of LGMDs, muscle MRI can aid in diagnosis. Larger cohorts of patients are needed to further enhance the application of muscle MRI in the neuromuscular field.
JOURNAL OF NEUROLOGY
(2023)
Article
Cell Biology
Carlos Palma-Flores, Luis Javier Cano-Martinez, Francisca Fernandez-Valverde, Itzel Torres-Perez, Sergio de los Santos, J. Manuel Hernandez-Hernandez, Adriana Fabiola Hernandez-Herrera, Silvia Garcia, Patricia Canto, Alejandro Zentella-Dehesa, Ramon Mauricio Coral-Vazquez
Summary: The study aimed to explore the expression of proteins involved in the repair process in different muscles at an early stage of muscular dystrophy. The results showed that muscles with different metabolic characteristics showed distinct expression patterns of proteins, which could be relevant in designing therapies for genetic and acquired myopathy.
JOURNAL OF MOLECULAR HISTOLOGY
(2023)
Article
Clinical Neurology
Wen-Chi Hsu, Yu-Ching Lin, Hai-Hua Chuang, Kun-Yun Yeh, Wing P. Chan, Long-Sun Ro
Summary: This study demonstrates that MRI evaluation of muscle fat substitution and edema can help differentiate LGMD from IIM. LGMD patients show high-grade fat substitution in most muscle groups, while IIM patients exhibit higher grade edema in certain muscles, with the adductor magnus muscle potentially serving as a biosignature for LGMD categorization.
FRONTIERS IN NEUROLOGY
(2021)
Article
Cell Biology
Travis D. Carney, Rucha Y. Hebalkar, Evgeniia Edeleva, Ibrahim Omer cicek, Halyna R. Shcherbata
Summary: Deficiencies in the human dystrophin glycoprotein complex (DGC) cause muscular dystrophies, which are incurable disorders associated with muscle, brain, and eye abnormalities. This study investigated the transcriptomic changes in mutants of four DGC components under stress conditions, revealing the novel function of DGC in stress-response signaling. The findings provide new insights into the etiology of muscular dystrophy symptoms and potential treatment directions.
DISEASE MODELS & MECHANISMS
(2023)
Review
Clinical Neurology
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun
Summary: Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease, characterized by deterioration of skeletal muscle and loss of mobility. The failure of respiratory and cardiac muscles is the main cause of premature death in most DMD patients. Dystrophin deficiency, caused by mutations in the dystrophin gene, plays a crucial role in the pathogenesis of DMD, leading to muscle cell damage and dysfunction.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Celine Bruge, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, Xavier Nissan
Summary: This study introduces a platform for modeling LGMD using hiPSC, providing a renewable and alternative source of skMC for studying LGMD.
Article
Clinical Neurology
Eric M. Libell, Noelle C. Bowdler, Carrie M. Stephan, Miriam Bridget Zimmerman, Amber M. Gedlinske, Katherine D. Mathews
Summary: This study investigated the experiences and outcomes of pregnancy in women with LGMDR9, finding that most pregnancies were uncomplicated but may require assisted vaginal delivery and could lead to progression of weakness. More research on pregnancy in specific LGMD subtypes is needed to confirm these findings and determine if risks vary by genotype.
Editorial Material
Developmental Biology
Joachim Berger, Thomas E. Hall, Peter D. Currie
Article
Multidisciplinary Sciences
David B. Gurevich, Phong Dang Nguyen, Ashley L. Siegel, Ophelia V. Ehrlich, Carmen Sonntag, Jennifer M. N. Phan, Silke Berger, Dhanushika Ratnayake, Lucy Hersey, Joachim Berger, Heather Verkade, Thomas E. Hall, Peter D. Currie
Article
Biochemistry & Molecular Biology
Joachim Berger, Silke Berger, Mei Li, Peter D. Currie
HUMAN MOLECULAR GENETICS
(2017)
Article
Biochemistry & Molecular Biology
Carolyn M. Dancevic, Yann Gibert, Joachim Berger, Adam D. Smith, Clifford Liongue, Nicole Stupka, Alister C. Ward, Daniel R. McCulloch
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2018)
Article
Cell Biology
Joachim Berger, Silke Berger, Mei Li, Arie S. Jacoby, Anders Arner, Navid Bavi, Alastair G. Stewart, Peter D. Currie
Article
Cell Biology
Joachim Berger, Peter D. Currie
DISEASE MODELS & MECHANISMS
(2012)
Article
Cell Biology
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie
DISEASE MODELS & MECHANISMS
(2014)
Article
Developmental Biology
Joachim Berger, Peter D. Currie
Article
Biochemistry & Molecular Biology
Jean Giacomotto, Nicolas Brouilly, Ludivine Walter, Marie-Christine Mariol, Joachim Berger, Laurent Segalat, Thomas S. Becker, Peter D. Currie, Kathrin Gieseler
HUMAN MOLECULAR GENETICS
(2013)
Article
Multidisciplinary Sciences
Manuela Cervelli, Gabriella Bellavia, Marcello D'Amelio, Virve Cavallucci, Sandra Moreno, Joachim Berger, Roberta Nardacci, Manuela Marcoli, Guido Maura, Mauro Piacentini, Roberto Amendola, Francesco Cecconi, Paolo Mariottini
Article
Anatomy & Morphology
Mervyn V. P. Dauer, Peter D. Currie, Joachim Berger
JOURNAL OF ANATOMY
(2018)
Article
Cell Biology
Joachim Berger, Mei Li, Silke Berger, Michelle Meilak, Jeanette Rientjes, Peter D. Currie
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2020)
Article
Genetics & Heredity
Joachim Berger, Silke Berger, Yu Shan G. Mok, Mei Li, Hakan Tarakci, Peter D. Currie
Summary: Sarcomere assembly is a complex process involving filament capping proteins. CapZ proteins, Lmod proteins, and Tmod proteins play different roles in thin filament assembly. Zebrafish mutants with deficiencies in these capping proteins exhibited sarcomere defects, suggesting their involvement in myofibril growth. However, the presence of residual organized sarcomeres in the mutants indicates that these proteins are not essential for initial myofibril assembly.
Article
Genetics & Heredity
Joachim Berger, Silke Berger, Peter D. Currie
Summary: A novel molecule called Mob4 has been discovered to play a role in the coordination of the contractile apparatus assembly. It is involved in the regulation of actin and tubulin biogenesis, which affects the growth of myofibrils and microtubule networks. This finding provides important insights into the molecular processes involved in sarcomere assembly and has implications for understanding human muscle diseases.