Article
Biochemistry & Molecular Biology
Yi-Ju Chen, Rathinasamy Baskaran, Ching Fang Chang, Zuhair M. Mohammedsaleh, Wan-Teng Lin
Summary: Sarcopenia, age-related muscle loss, has negative health consequences such as decreased strength and insulin resistance. The bioactive peptide DI-10 promotes myoblast differentiation and upregulates mitochondrial-related transcription factors under hyperglycemic conditions. This suggests DI-10's potential as a therapeutic candidate for preventing muscle degeneration in sarcopenia.
Article
Clinical Neurology
Laura E. Habets, Bart Bartels, Fay-Lynn Asselman, Melissa T. Hooijmans, Sandra van den Berg, Aart J. Nederveen, W. Ludo van der Pol, Jeroen A. L. Jeneson
Summary: This study provides clinical evidence of abnormal muscle bioenergetics in patients with hereditary proximal spinal muscular atrophy, suggesting a potential role of mitochondrial dysfunction in the disease pathogenesis. The study also highlights the contribution of degeneration and atrophy of motor neurons and associated musculature, as well as the depletion of specific myofiber types, to muscle weakness in this cohort. These findings contribute to a better understanding of the underlying mechanisms of the disease and provide potential new biomarkers and targets for therapy.
Review
Biochemistry & Molecular Biology
Eleonora Zilio, Valentina Piano, Brunhilde Wirth
Summary: This review discusses the impact of spinal muscular atrophy (SMA) on mitochondrial functions in the neuronal and muscular systems, highlighting the potential contribution of mitochondrial defects to disease progression and the potential of restoring mitochondrial functionality as a therapeutic approach. The study also provides a list of transcripts encoding mitochondrial proteins affected in various SMA models and speculates that age-related mitochondrial deterioration may play a crucial role in adult SMA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Fasih Ahmad Rahman, Joe Quadrilatero
Summary: Mitochondria are important in apoptotic signaling, involved in eliminating dysfunctional cells and also contributing to myogenic differentiation and skeletal muscle atrophy. Activation of caspases aids in myogenic differentiation by cleaving proteins, and during muscle atrophy they lead to myonuclear fragmentation and cleavage of contractile structures. The BCL2 protein family regulates mitochondrial apoptotic signaling in myogenesis and muscle atrophy. This review discusses the role of mitochondrial apoptotic signaling in skeletal muscle remodeling during myogenic differentiation and in pathological states.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2023)
Article
Cell Biology
Audrey Loumaye, Pascale Lause, Xiaoling Zhong, Teresa A. Zimmers, Laure B. Bindels, Jean-Paul Thissen
Summary: This study investigated the effects of Activin A (ActA) on human skeletal muscle (SM) and in mouse models of cancer-induced cachexia (CC). The results showed that ActA induces myotube atrophy and inhibits the expression and activity of MEF2C, leading to the decrease in MyHC-beta/slow, the main myosin isoform in human muscle cells. Animal models of CC exhibited a decline in MEF2C expression and SM mass, which were both attenuated by ActA inhibition. This study reveals a novel interaction between ActA signaling and MEF2C transcriptional activity in SM atrophy in CC models.
Article
Clinical Neurology
Hee-Jin Cho, Jin-Hong Shin, Young-Eun Park, Eunhee Sohn, Tai-Seung Nam, Min-Gu Kang, Jin-Mo Park, Donghwi Park, Jin-Sung Park
Summary: Cho et al. characterized a large sample of Korean patients with genetically confirmed spinal and bulbar muscular atrophy, providing genetic, electrophysiological, clinical, and hormonal data. The findings will help interpret future clinical trial results and support early diagnosis.
Article
Clinical Neurology
Jacqueline Montes, Ashley M. Goodwin, Michael P. McDermott, David Uher, Feliz Marie Hernandez, Kayla Coutts, Julia Cocchi, Margarethe Hauschildt, Kayla M. Cornett, Ashwini K. Rao, Umrao R. Monani, Carol Ewing Garber, Darryl C. De Vivo
Summary: This study reveals reduced muscle oxygen uptake and increased fatigue during exercise in individuals with spinal muscular atrophy (SMA) compared to healthy controls, with significant correlations between muscle oxygen uptake and aerobic capacity, workload, and body composition in SMA patients. Understanding the mechanisms underlying these changes may lead to identifying new therapeutic targets for alleviating symptoms and reducing disease burden in SMA patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Review
Clinical Neurology
H. S. Lapp, M. Freigang, T. Hagenacker, M. Weiler, C. D. Wurster, Rene Guenther
Summary: 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by mutations in the SMN1 gene, resulting in the degeneration of motor neurons. New disease-modifying drugs have revolutionized SMA treatment, but the need for biomarkers for therapeutic guidance and disease monitoring remains.
JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
MyeongHoon Yeon, Hojung Choi, Kwang-Hoon Chun, Jong Han Lee, Hee-Sook Jun
Summary: Gomisin G has potential therapeutic effects on disuse muscle atrophy by increasing muscle cross-sectional area, muscle strength, and improving mitochondrial function.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Biochemistry & Molecular Biology
Aeyung Kim, Sang-Min Park, No Soo Kim, Haeseung Lee
Summary: Ginsenoside Rc (gRc) effectively reduces oxidative stress-induced damage to muscle cells, promotes mitochondrial function and ATP production, and slows down muscle degradation and loss. gRc also regulates genes related to mitochondrial mass and biogenesis, while suppressing genes associated with muscle degradation. These findings suggest that gRc has potential as a promising treatment for muscle loss and weakness.
Article
Clinical Neurology
Thomas Meyer, Andre Maier, Zeljko Uzelac, Tim Hagenacker, Rene Guenther, Olivia Schreiber-Katz, Markus Weiler, Robert Steinbach, Ute Weyen, Jan Christoph Koch, Dagmar Kettemann, Jenny Norden, Johannes Dorst, Claudia Wurster, Albert C. Ludolph, Benjamin Stolte, Maren Freigang, Alma Osmanovic, Susanne Petri, Julian Grosskreutz, Annekathrin Roediger, Ramona Griep, Marcel Gaudlitz, Bertram Walter, Christoph Muench, Susanne Spittel
Summary: This study investigated treatment expectations and perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen. The results showed that patients had a positive perception of nusinersen therapy, and treatment expectations were associated with SMA type and functional status.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Food Science & Technology
Won-Chul Lim, Eun Ju Shin, Tae-Gyu Lim, Jae Woong Choi, Nho-Eul Song, Hee-Do Hong, Chang-Won Cho, Young Kyoung Rhee
Summary: G-Rf enhances exercise endurance in mice by promoting myoblast differentiation and enhancing mitochondrial biogenesis through the AMPK and p38 MAPK signaling pathways, leading to increased energy production.
Article
Biology
Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Summary: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. miRNome analysis suggests the primary involvement of skeletal muscle in SMA pathogenesis. Three specific miRs were found to be significantly upregulated in the serum of patients, and the severity predicted by the SMA-score showed a high correlation with clinical classification.
Article
Geriatrics & Gerontology
Na Liang, Jia He, Jiaqi Yan, Xueying Han, Xiaoqian Zhang, Yamei Niu, Wuga Sha, Jun Li
Summary: DBC1 knockdown in skeletal muscle leads to muscle atrophy and impairs muscle regeneration through the regulation of FOXO3. This research highlights the importance of DBC1 for healthy skeletal muscle function and its connection to muscular atrophy.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Review
Biochemistry & Molecular Biology
Amelia Eva Aranega, Estefania Lozano-Velasco, Lara Rodriguez-Outeirino, Felicitas Ramirez de Acuna, Diego Franco, Francisco Hernandez-Torres
Summary: miRNAs play a critical role in modulating muscle regeneration and stem cell behavior, which is essential for treating muscle disorders. Recent advancements suggest that optimizing muscle stem cell response through miRNAs, in conjunction with gene replacement therapies, can improve muscle regeneration in the context of DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
Summary: This study aimed to analyze the correlation between electrophysiological parameters and clinical characteristics of ALS. The results showed a significant association between AD and CD scores and disease progression, survival, and functional disability in ALS patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Mata, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Summary: We developed a novel unsupervised cluster analysis method to study 600 patients with suspected inherited myopathy. By integrating genetic, morphological, and clinical data, we identified 4 clusters with distinctive clinical and morphological features among 64 patients with RYR1 variants. This study provides more precise genotype-phenotype correlations for RYR1-related myopathy.
Article
Clinical Neurology
Giacomo P. Comi, Erik H. Niks, Krista Vandenborne, Claudia M. Cinnante, Hermien E. Kan, Rebecca J. Willcocks, Daniele Velardo, Francesca Magri, Michela Ripolone, Jules J. van Benthem, Nienke M. van de Velde, Simone Nava, Laura Ambrosoli, Sara Cazzaniga, Paolo U. Bettica
Summary: This study investigated the efficacy and safety of givinostat in adults with Becker muscular dystrophy (BMD). The primary endpoint of statistical superiority for mean change in total fibrosis was not achieved. However, MRI assessments suggested that givinostat may potentially prevent or slow down BMD disease progression.
FRONTIERS IN NEUROLOGY
(2023)
Article
Health Care Sciences & Services
Michela Ripolone, Simona Zanotti, Laura Napoli, Dario Ronchi, Patrizia Ciscato, Giacomo Pietro Comi, Maurizio Moggio, Monica Sciacco
Summary: A 53-year-old man with hyperckemia was diagnosed with maternally inherited mitochondrial disorder MERRF, characterized by myoclonus epilepsy and ragged-red fibers. His two sisters also carried the mutation, but showed no severe neurological symptoms.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Gianluca Costamagna, Sara Bonato, Stefania Corti, Megi Meneri
Summary: Cerebrovascular diseases are a leading cause of disability, morbidity, and death worldwide. Recent advances in endovascular procedures have allowed for a thorough analysis of thrombus composition and stroke mechanisms using single- or multi-omic approaches. These techniques hold the potential to better understand stroke-related thrombogenesis, select prevention strategies, and discover new biomarkers and therapeutic targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Summary: Collagen VI is a heterotrimeric protein that maintains cell integrity by forming a microfilamentous network connecting the cytoskeleton and extracellular matrix. Mutations in COL6A1, COL6A2, and COL6A3 genes can result in severe muscular dystrophy or mild myopathy. In this study, we analyzed the clinical and genetic data of 15 COL6-mutated patients, revealing a diverse range of phenotypes and the identification of novel pathogenic variants. The use of histological, immunological, and ultrastructural techniques confirmed the COL6 distribution variability and extracellular matrix disorganization, highlighting the importance of a multidisciplinary approach in the diagnosis of COL6 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Correction
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
JOURNAL OF NEUROLOGY
(2023)
Article
Geriatrics & Gerontology
Nicole Comfort, Meethila Gade, Madeleine Strait, Samantha J. Merwin, Daphne Antoniou, Chiara Parodi, Lina Marcinczyk, Lea Jean-Francois, Tessa R. Bloomquist, Anna Memou, Hardy J. Rideout, Stefania Corti, Shingo Kariya, Diane B. Re
Summary: This study conducted a longitudinal transcriptomic analysis on aging mice, and found that the central nervous system may play a crucial role in skeletal muscle aging. These findings provide new insights into the mechanisms of muscle aging.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Cell Biology
Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco
Summary: Phospholamban plays a role in regulating calcium activity and storage in cardiac muscle. This study investigated the effect of PLN gene mutations in skeletal muscle and found histological and functional alterations, suggesting a potential association between PLN mutations and skeletal muscle involvement. Further studies are needed to understand the pathomechanism and potential therapeutic options for PLN-related skeletal muscle disorders.
Article
Clinical Neurology
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A. Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P. Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G. D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S. Ricci, Angela L. Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C. Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri
Summary: This study provides an overview of the clinical phenotypes associated with 4 SMN2 copies. The results show variability in untreated patients, ranging from type II to type IV, with an overall reduction in functional scores as age increases. The risk of losing ambulation is significantly associated with SMA type, and women have a lower risk of losing ambulation compared to men.
ANNALS OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Dario Ronchi, Manuela Garbellini, Francesca Magri, Francesca Menni, Megi Meneri, Maria Francesca Bedeschi, Robertino Dilena, Valeria Cecchetti, Irene Picciolli, Francesca Furlan, Valentina Polimeni, Sabrina Salani, Laura Pezzoli, Francesco Fortunato, Matteo Bellini, Daniela Piga, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Monica Sciacco, Giovanna Mangili, Fabio Mosca, Stefania Corti, Maria Iascone, Giacomo Pietro Comi
Summary: This study describes a molecular defect in the COX18 gene as the likely cause of a neonatal form of mitochondrial encephalo-cardio-myopathy and axonal sensory neuropathy. Whole exome sequencing identified a previously unreported homozygous substitution NM_001297732.2:c.667 G > C p.(Asp223His) in COX18. The patient's muscle biopsy revealed severe COX deficiency and mitochondrial abnormalities, which were partially rescued by wild-type COX18 cDNA delivery.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Eleonora Colombo, Francesco Gentile, Alessio Maranzano, Alberto Doretti, Federico Verde, Marco Olivero, Delia Gagliardi, Matteo Fare, Megi Meneri, Barbara Poletti, Luca Maderna, Stefania Corti, Massimo Corbo, Claudia Morelli, Vincenzo Silani, Nicola Ticozzi
FRONTIERS IN NEUROLOGY
(2023)