Review
Biochemistry & Molecular Biology
Patrizia Bottoni, Giulia Gionta, Roberto Scatena
Summary: Mitochondrial myopathies are a heterogeneous group of diseases caused by genetic mutations in proteins involved in mitochondrial oxidative metabolism. These myopathies show significant differences in their evolution, but some physiological and pathophysiological aspects of mitochondria reveal other potential molecular mechanisms that may play a significant role in their clinical progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Ingrid E. Lundberg, Manabu Fujimoto, Jiri Vencovsky, Rohit Aggarwal, Marie Holmqvist, Lisa Christopher-Stine, Andrew L. Mammen, Frederick W. Miller
Summary: Idiopathic inflammatory myopathies, also known as myositis, are a group of autoimmune disorders with heterogeneous clinical manifestations and organ involvement. Different subtypes have varying prognoses, treatment responses, and organ manifestations, highlighting the importance of understanding the underlying pathophysiological mechanisms.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Review
Biochemistry & Molecular Biology
Sara Gibertini, Alessandra Ruggieri, Marta Cheli, Lorenzo Maggi
Summary: This review summarizes the current research on the direct involvement of aggrephagy and the activation of key players (such as p62, NBR1, Alfy, Tollip, Optineurin, TAX1BP1, and CCT2) in muscular diseases. The first part of the review describes the aggrephagy pathway and the proteins involved; then, it illustrates the histological characterization of muscular disorders with protein aggregates, highlighting the role of aggrephagy pathway abnormalities in these disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Mari Kamiya, Fumitaka Mizoguchi, Kimito Kawahata, Dengli Wang, Masahiro Nishibori, Jessica Day, Cynthia Louis, Ian P. Wicks, Hitoshi Kohsaka, Shinsuke Yasuda
Summary: Muscle cell death in polymyositis is induced by CD8(+) cytotoxic T lymphocytes. Inhibition of necroptosis in muscle cells could be a promising strategy for treating polymyositis and suppressing muscle injury and inflammation.
NATURE COMMUNICATIONS
(2022)
Article
Immunology
Matilde Bandeira, Eduardo Dourado, Ana Teresa Melo, Patricia Martins, Vanessa Fraga, Jose Luis Ferraro, Andre Saraiva, Marlene Sousa, Hugo Parente, Catarina Soares, Ana Margarida Correia, Diogo Esperanca Almeida, Sara Paiva Dinis, Ana Sofia Pinto, Filipe Oliveira Pinheiro, Maria Seabra Rato, Tiago Beirao, Beatriz Samoes, Bernardo Santos, Carolina Mazeda, Ana Teodosio Chicharo, Margarida Faria, Agna Neto, Maria Helena Lourenco, Luisa Brites, Marilia Rodrigues, Joana Silva-Dinis, Joao Madruga Dias, Filipe C. Araujo, Nadia Martins, Maura Couto, Ana Valido, Maria Jose Santos, Sofia Carvalho Barreira, Joao Eurico Fonseca, Raquel Campanilho-Marques
Summary: This study found that anti-SRP antibodies were predictors of cardiac involvement in IIM patients, regardless of demographic characteristics and lung involvement. Frequent screening for heart involvement is suggested in anti-SRP-positive IIM patients.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Immunology
Andrea Farini, Chiara Villa, Luana Tripodi, Mariella Legato, Yvan Torrente
Summary: Muscular dystrophies and inflammatory myopathies are muscular disorders characterized by progressive muscle weakness and mass loss, with shared features of inflammation and immune response. Immune mechanisms involved include complement cascade activation and auto-antibodies directed against muscular proteins.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Sukru Anil Dogan, Giacomo Giacchin, Ester Zito, Carlo Viscomi
Summary: This article discusses the role of ROS signaling in myopathies caused by dysfunction of mitochondria or endoplasmic reticulum. ROS act as double-edged sword, damaging cellular structures and acting as second messengers in signal transduction. Mitochondria and endoplasmic reticulum play a central role in ROS production, detoxification, and oxidative stress response.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Review
Medicine, General & Internal
Ignazio Giuseppe Arena, Alessia Pugliese, Sara Volta, Antonio Toscano, Olimpia Musumeci
Summary: Mitochondrial disorders are common, inherited conditions characterized by defects in oxidative phosphorylation caused by mutations in nuclear or mitochondrial genes. Skeletal muscle is typically affected due to its high energy demand. Advances in next-generation sequencing techniques have improved diagnosis and identified new therapeutic targets. An increasing number of mutations have been found to be responsible for mitochondrial disorders.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Geriatrics & Gerontology
Wei Chen, Yushi Chen, Yuxi Liu, Xinxia Wang
Summary: Autophagy is a physiological process that plays a crucial role in degrading cellular components and regulating cellular structure. It has been found to have various mechanisms and functions in muscle regeneration, including influencing the fate of muscle stem cells and regulating muscle cell functions. Understanding the role and mechanism of autophagy in muscle regeneration can lead to the development of more effective therapeutic strategies.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Review
Immunology
Miriam Cox, Robert D. Sandler, Marco Matucci-Cerinic, Michael Hughes
Summary: Review of literature on bone health in patients with idiopathic inflammatory myopathies (IIM) showed high prevalence of osteopenia, osteoporosis, and vertebral fractures. Systemic inflammation may contribute to reduced bone mineral density in children with IIM, while data is lacking for adult patients. Further research is needed to develop specific management recommendations for bone health in IIM patients.
AUTOIMMUNITY REVIEWS
(2021)
Article
Agriculture, Dairy & Animal Science
Sandra G. Velleman
Summary: The structure of the broiler breast muscle has changed in modern commercial broilers, with increased muscle fiber diameters, decreased circulatory supply, and decreased connective spacing between fibers. Satellite cells, responsible for muscle growth and repair, have been found to undergo changes that limit their ability to regenerate damaged muscle fibers. These cellular changes are likely linked to myopathies such as Wooden Breast.
Article
Medicine, General & Internal
Weng Ian Che, Helga Westerlind, Ingrid E. Lundberg, Karin Hellgren, Ralf Kuja-Halkola, Marie E. Holmqvist
Summary: The study investigated familial associations between idiopathic inflammatory myopathies (IIM) and different autoimmune diseases (ADs), finding that patients with IIM had higher odds of having relatives affected by other rheumatic inflammatory diseases (RID) and celiac disease (CeD). Familial associations were also observed for other RIDs, inflammatory bowel diseases (IBD), autoimmune thyroid diseases (AITD), and CeD, suggesting shared genetic susceptibility between IIM and various ADs.
JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Immunology
Jia Shi, Mingwei Tang, Shuang Zhou, Dong Xu, Jiuliang Zhao, Chanyuan Wu, Qian Wang, Xinping Tian, Mengtao Li, Xiaofeng Zeng
Summary: Research has shown that dysregulated cell death and impaired clearance of dead cells contribute to the pathogenesis of idiopathic inflammatory myopathy, leading to immune responses and tissue damages. This provides evidence for potential therapeutic targets in treating IIM.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Valerie Leclair, Angeles S. Galindo-Feria, Simon Rothwell, Olga Krystufkova, Sepehr Sarrafzadeh Zargar, Herman Mann, Louise Pyndt Diederichsen, Helena Andersson, Martin Klein, Sarah Tansley, Lars Ronnblom, Kerstin Lindblad-Toh, Ann-Christine Syvanen, Marie Wahren-Herlenius, Johanna K. Sandling, Neil McHugh, Janine A. Lamb, Jiri Vencovsky, Hector Chinoy, Marie Holmqvist, Matteo Bianchi, Leonid Padyukov, Ingrid E. Lundberg, Lina-Marcela Diaz-Galloc
Summary: In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific HLA genetic variants and clinical manifestations. Distinct HLA class II and I associations were observed for almost all autoantibody-defined subgroups, supporting the use of autoantibody profiles for classifying IIM.
Article
Biochemistry & Molecular Biology
Archibold Mposhi, Lin Liang, Kevin P. Mennega, Dilemin Yildiz, Crista Kampert, Ingrid H. Hof, Pytrick G. Jellema, Tom J. de Koning, Klaas Nico Faber, Marcel H. J. Ruiters, Klary E. Niezen-Koning, Marianne G. Rots
Summary: Mutations in mitochondrial DNA or nuclear genes encoding mitochondrial proteins can lead to dysfunctional mitochondria and mitochondrial diseases. This study investigated the role of mtDNA methylation in explaining impaired mitochondrial function in myopathy patients without known genetic mutations. Enhanced mtDNA methylation was observed in muscle biopsies of myopathy patients compared to healthy controls, but no disease-associated difference in mtDNA methylation was found in fibroblast samples. The study also discovered increased expression of SLC25A26 and enhanced mtDNA copy numbers in myopathy fibroblasts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Anesthesiology
Luuk R. van den Bersselaar, Anna Hellblom, Mejdan Gashi, Erik-Jan Kamsteeg, Nicol C. Voermans, Heinz Jungbluth, Joris de Puydt, Luc Heytens, Sheila Riazi, Marc M. J. Snoeck
Summary: The introduction of next-generation sequencing has led to an increase in the identification of RYR1 variants in the diagnosis of neuromuscular disorders. This study examines the referral indications and outcomes of patients without a personal/family history of adverse anesthetic events to malignant hyperthermia units. It is found that the proportion of patients without such history has increased, and those with a personal/family history are more likely to be diagnosed as malignant hyperthermia-susceptible.
Review
Anesthesiology
Luuk R. van den Bersselaar, Madelief Gubbels, Sheila Riazi, Luc Heytens, Heinz Jungbluth, Nicol C. Voermans, Marc M. J. Snoeck
Summary: This scoping review examined the anesthetic management and perioperative complications of patients with neuromuscular disorders (NMDs). The included studies mainly consisted of small retrospective studies and case reports, providing limited evidence. Preanesthetic neuromuscular monitoring can be useful for precise dosing of neuromuscular blocking agents in myasthenia gravis patients. Sugammadex is associated with fewer postoperative myasthenic crises. The choice of anesthetic agents and their association with perioperative complications in NMD patients require further investigation.
CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE
(2022)
Article
Clinical Neurology
Luuk R. van den Bersselaar, Luc Heytens, Helga C. A. Silva, Jens Reimann, Giorgio Tasca, Oscar Diaz-Cambronero, Nicoline Lokken, Anna Hellblom, Philip M. Hopkins, Henrik Rueffert, Boerge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C. Voermans, Marc M. J. Snoeck
Summary: The European Neuromuscular Centre (ENMC) has released a consensus statement on anaesthesia in patients with neuromuscular disorders. Based on literature research and expert opinions, specific recommendations have been formulated for different types of myopathies and neuromuscular junction disorders. General recommendations for anaesthetic management of patients with neuromuscular disorders are also provided in this consensus statement.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Sheila Riazi, Luuk R. van den Bersselaar, Gunilla Islander, Luc Heytens, Marc M. J. Snoeck, Andrew Bjorksten, Robyn Gillies, George Dranitsaris, Anna Hellblom, Susan Treves, Gudrun Kunst, Nicol C. Voermans, Heinz Jungbluth
Summary: This study investigated the role of pre-operative exercise and pyrexia in malignant hyperthermia. The findings suggest a link between pre-operative exercise, pyrexia, and malignant hyperthermia.
NEUROMUSCULAR DISORDERS
(2022)
Article
Anesthesiology
Carlos A. Ibarra Moreno, Natalia Kraeva, Elena Zvaritch, Heinz Jungbluth, Nicol C. Voermans, Sheila Riazi
Summary: In this retrospective study, oral dantrolene was found to relieve myopathic symptoms in patients susceptible to malignant hyperthermia. The treatment was well tolerated with no serious adverse effects reported, and the majority of patients experienced symptom improvement. These findings provide a basis for further clinical trials to evaluate the efficacy of oral dantrolene in MH-related myopathies.
ANESTHESIA AND ANALGESIA
(2023)
Review
Pediatrics
Vasantha Lakshmi Gowda, Miguel A. Fernandez-Garcia, Heinz Jungbluth, Elizabeth Wraige
Summary: Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by gene mutations. Clinical trials have shown that several compounds can restore survival motor neuron (SMN) protein production in SMA patients, thus altering the natural course of the disease. Currently, three drugs have been authorized for SMA treatment. However, clinicians face challenges in using these drugs, and early diagnosis at the pre-symptomatic stage is crucial.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Editorial Material
Clinical Neurology
Sonia Khamis, Maria R. Mitakidou, Michael Champion, Sushma Goyal, Rachel L. Jones, Ata Siddiqui, Saraswathy Sabanathan, Tammy Hedderly, Jean-Pierre Lin, Heinz Jungbluth, Apostolos Papandreou
Summary: The epilepsy-dyskinesia spectrum is being recognized more often in neurogenetic and neurometabolic conditions, but diagnosing it can be challenging due to its clinical and genetic heterogeneity, atypical presentations, rareness, and the lack of biomarkers. This report describes a case of a teenage girl with a complex neurologic presentation, highlighting the importance of clinical awareness, timely diagnosis, and the utility of next-generation sequencing in determining the underlying etiology.
Article
Clinical Neurology
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Genevieve Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Summary: Research has found that pathogenic variants in the MORC2 gene are associated with phenotypic similarities to Cockayne syndrome (CS) and accelerated aging features. Unlike traditional DNA repair disorders, MORC2-related disorders are not associated with a defect in transcription-coupled nucleotide excision repair and follow a dominant pattern of inheritance, with variants typically arising de novo. The results suggest that MORC2 should be included in diagnostic genetic test panels for evaluating microcephaly and/or suspected DNA repair disorders.
PEDIATRIC NEUROLOGY
(2023)
Review
Clinical Neurology
Jildou N. Dijkstra, Eline Boon, Nick Kruijt, Esther Brusse, Sithara Ramdas, Heinz Jungbluth, Baziel G. M. van Engelen, Jon Walters, Nicol C. Voermans
Summary: Muscle cramps are painful, involuntary contractions that are typically a normal part of human physiology. They can be caused by various acquired or inherited factors, but rarely by progressive systemic or neuromuscular diseases. General practitioners and neurologists often encounter patients with muscle cramps and less frequently those with contractures. Clinicians need to determine whether it is a muscle cramp, contracture, or mimic, as well as the cause and appropriate diagnostic and treatment strategies.
PRACTICAL NEUROLOGY
(2023)
Article
Pediatrics
Julie Wacker, Stefano Di Bernardo, Johannes Alexander Lobrinus, Heinz Jungbluth, Mathias Gautel, Maurice Beghetti, Joel Fluss
Summary: This case report presents a boy with congenital core myopathy caused by compound heterozygosity for TTN variants. The boy developed rapidly evolving restrictive cardiomyopathy in infancy and underwent heart transplantation at the age of 5, with favorable long-term cardiac and neuromuscular outcomes.
PEDIATRIC TRANSPLANTATION
(2023)
Article
Clinical Neurology
Luuk R. van den Bersselaar, Nens van Alfen, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A. Fernandez-Garcia, Susan Treves, Sheila Riazi, Chu-Ya Yang, Ignacio Malagon, Lucas T. van Eijk, Baziel G. M. van Engelen, Gert-Jan Scheffer, Heinz Jungbluth, Marc M. J. Snoeck, Nicol C. Voermans
Summary: A muscle ultrasound study on 40 patients with RYR1 variants associated with MH susceptibility revealed that 38% had abnormal ultrasound results, 10% had borderline results, and 53% had normal results. Muscle hypertrophy and increased echogenicity were common abnormalities observed.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Pediatrics
Vasantha Lakshmi Gowda, Heinz Jungbluth, Elizabeth Wraige
ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION
(2023)
Article
Clinical Neurology
Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F. I. Reumers, Nicoline B. M. Voet, Jonne Doorduin, Corrie E. Erasmus, Erik-Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans
Summary: Centronuclear myopathy (CNM) is a group of muscle disorders characterized by muscle weakness and respiratory dysfunction caused by mutations in specific genes. This study collected respiratory function data from Dutch CNM patients and found that 54% of patients had respiratory dysfunction. The study provides a basis for future natural history studies.
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Dennis T. Famili, Arti Mistry, Oleg Gerasimenko, Julia Gerasimenko, Rachel M. Tribe, Eirini Kyrana, Anil Dhawan, Michael F. Goldberg, Nicol Voermans, Tracey Willis, Heinz Jungbluth
Summary: This study reports three patients with inherited neuromuscular disorders who also developed symptoms of acute pancreatitis. The findings suggest that patients with RYR1 gain-of-function variants may be at increased risk of developing acute pancreatitis.
NEUROMUSCULAR DISORDERS
(2023)
Review
Sport Sciences
Nick Kruijt, L. R. van den Bersselaar, M. T. E. Hopman, M. M. J. Snoeck, M. van Rijswick, T. G. H. Wiggers, H. Jungbluth, C. C. W. G. Bongers, N. C. Voermans
Summary: This study reveals major inconsistencies in prehospital and in-hospital management, highlighting the need for standardized protocols. A significant proportion of patients experience symptoms even 12 months after the event, including muscle and mental health issues; patients express a preference for more consistent advice when resuming activities and sports.
SPORTS MEDICINE-OPEN
(2023)