Article
Clinical Neurology
Shu Zhang, Lin Lei, Zhirong Fan, Shengyao Su, Jianying Duo, Qinrong Luan, Yan Lu, Li Di, Min Wang, Yuwei Da
Summary: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.
FRONTIERS IN NEUROLOGY
(2021)
Article
Genetics & Heredity
Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong
Summary: This study investigated the clinical manifestations, pathological features, and genetic characteristics of 8 Chinese RSMD1 patients to enhance the diagnosis and management of the disease. The study found that RSMD1 patients commonly experience delayed motor development, muscle weakness, hypotonia, and respiratory system involvement, and SEPN1 gene mutations often occur in exon 1.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Oezkan Oezdemir, Hulya-Sevcan Daimagueler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joel Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Michael Hanna, Francesco Muntoni, Anna Sarkozy, Rahul Phadke, Ros Quinlivan, Emily C. Oates, Rolf Schroeder, Christian Thiel, Jens Reimann, Nicol Voermans, Corrie Erasmus, Erik-Jan Kamsteeg, Chaminda Konersman, Carla Grosmann, Shane McKee, Sandya Tirupathi, Steven A. Moore, Ekkehard Wilichowski, Elke Hobbiebrunken, Gabriele Dekomien, Isabelle Richard, Peter Van den Bergh, Cristina Dominguez-Gonzalez, Sebahattin Cirak, Ana Ferreiro, Heinz Jungbluth, Mathias Gautel
Summary: The diagnosis of TTN-related myopathies can be complicated due to overlap with other myopathies and TTN variants in control populations. This study identified key clinical and pathological features that can suggest TTN-related myopathies, and demonstrated the destabilizing nature of missense mutations associated with CMs. These findings suggest a potential therapeutic target for recessive titinopathies.
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Charlotte Gineste, Alix Simon, Marie Braun, David Reiss, Jocelyn Laporte
Summary: The study shows that tamoxifen can improve muscle function and structure in mouse models of BIN1 and DNM2-related centronuclear myopathies, likely by reducing dynamin 2 levels. This suggests the potential repurposing of tamoxifen for the treatment of autosomal forms of centronuclear myopathies.
Article
Clinical Neurology
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Stefania Corti, Giacomo P. Comi, Francesca Magri
Summary: RYR1-RCM is the most common subgroup among congenital myopathies, presenting with high clinical heterogeneity. Early comprehensive characterization and genetic analysis are crucial for diagnosis and prompt medical management.
FRONTIERS IN NEUROLOGY
(2021)
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)
Review
Cardiac & Cardiovascular Systems
Diana Maria Ronderos-Botero, Arundhati Dileep, Laura Yapor, Ravish Singhal
Summary: The reciprocal interaction between the heart and lung, known as cardiopulmonary coupling (CPC), plays a crucial role in maintaining the functional and anatomical reserve of the body. However, disruptions in CPC can occur in patients with cardiac or pulmonary pathologies as well as those with myopathies. This article presents a case of nemaline myopathy (NM) and reviews the literature on the effects of myopathy-related disruption of CPC on cardiac and pulmonary function.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Amra Jujic, John Molvin, Lutz Schomburg, Oliver Hartmann, Andreas Bergmann, Olle Melander, Martin Magnusson
Summary: A recent study found that high selenium levels are associated with reduced mortality and incidence of heart failure (HF), but only in non-smokers. This study aimed to investigate whether selenoprotein P (SELENOP) is associated with incident HF. The results showed that low SELENOP levels are associated with a higher risk of incident HF in the general population.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Martijn van de Locht, Tamara C. Borsboom, Josine M. Winter, Coen A. C. Ottenheijm
Summary: Variants in skeletal troponin encoding genes can compromise sarcomere function, with potential therapeutic strategies including troponin activators and gene therapy. The pathophysiological effects of these variants are not fully understood, emphasizing the need for further research into treatment strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Yang Liu, Xin Dou, Wei-Yu Zhou, Meng Ding, Ling Liu, Ruo-Qi Du, Liang Guo, Shu-Wen Qian, Yan Tang, Qi-Qi Yang, Dong-Ning Pan, Xiao-Ying Li, Yan Lu, Jin-Ke Cheng, Qi-Qun Tang
Summary: The liver-specific knockout of SENP2 in mice showed resistance to high-fat diet-induced hepatic steatosis and obesity, upregulation of genes involved in fatty acid oxidation, and downregulation of genes in lipogenesis. Additionally, ablation of hepatic SENP2 activated thermogenesis in adipose tissues, promoting energy homeostasis. FGF21 was identified as a key factor in maintaining metabolic balance in SENP2 knockout mice.
Article
Medicine, General & Internal
Mariana I. Munoz-Garcia, Maria Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernandez de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-Lopez, Aurelio Hernandez-Lain, Miguel A. Martin, Cristina Dominguez-Gonzalez
Summary: This study reported 3 cases of congenital myasthenic syndromes (CMS) initially misdiagnosed as primary mitochondrial myopathies (PMM). The patients presented with ptosis, external ophthalmoplegia, limb weakness, and fatigue. Early identification of CMS is crucial for effective medical treatment.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Clinical Neurology
Nika Maani, Sophie Karolczak, James J. Dowling
Summary: The field of genetic therapies is rapidly advancing, with the first gene-based treatments now in clinical practice. While there are currently no approved drug therapies for congenital myopathies, several candidate therapeutics, including gene replacement therapy and antisense oligonucleotide-based gene knockdown, are in development. Genetic therapies are bringing precision medicine to neurological diseases, with congenital myopathies being ideally suited for these approaches.
CURRENT OPINION IN NEUROLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Ryohei Takeishi, Tomofumi Misaka, Yasuhiro Ichijo, Shinji Ishibashi, Mitsuko Matsuda, Yukio Yamadera, Himika Ohara, Yukiko Sugawara, Yu Hotsuki, Koichiro Watanabe, Fumiya Anzai, Yu Sato, Takamasa Sato, Masayoshi Oikawa, Atsushi Kobayashi, Takayoshi Yamaki, Kazuhiko Nakazato, Akiomi Yoshihisa, Yasuchika Takeishi
Summary: Selenoprotein P derived from the liver is associated with hepatic hypoperfusion and may serve as a novel target for cardiohepatic interactions and a useful biomarker for predicting prognosis in patients with heart failure.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Stijn Arnaert, Pieter De Meester, Els Troost, Walter Droogne, Lucas Van Aelst, Johan Van Cleemput, Gabor Voros, Marc Gewillig, Bjorn Cools, Philip Moons, Filip Rega, Bart Meyns, Zhenyu Zhang, Werner Budts, Alexander Van De Bruaene
Summary: The study provides insights into the prevalence, outcomes, and factors associated with ACHD-HF, highlighting its higher occurrence in complex CHD and association with poor prognosis. Factors related to ACHD-HF were identified, with differences observed between specific anatomical and physiological subgroups.
Article
Clinical Neurology
Qiang Gang, Conceicao Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei-wei Liu, David Beeson, Michael Hanna, Henry Houlden
Summary: This study identified genetic variants associated with myopathies with tubular aggregates (TAs) and demonstrated the potential role of ALG14 variants in TAs pathogenesis through cell experiments. The findings expand the phenotypic and genotypic spectrums of myopathies with TAs and support the hypothesis that genes related to calcium signaling pathway and N-linked glycosylation pathway are key genetic causes of TAs.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Anne Filipe, Alexander Chernorudskiy, Sandrine Arbogast, Ersilia Varone, Rocio-Nur Villar-Quiles, Diego Pozzer, Maryline Moulin, Stefano Fumagalli, Eva Cabet, Swati Dudhal, Maria-Grazia De Simoni, Raphael Denis, Nathalie Vadrot, Corinne Dill, Matteo Giovarelli, Luke Szweda, Clara De Palma, Paolo Pinton, Carlotta Giorgi, Carlo Viscomi, Emilio Clementi, Sonia Missiroli, Simona Boncompagni, Ester Zito, Ana Ferreiro
Summary: SEPN1-related myopathy is a muscle disorder caused by mutations in the SEPN1 gene, characterized by muscle weakness and fatigue. Research has shown that SEPN1 is enriched at the mitochondria-associated membranes (MAM) and is necessary for calcium transients between the ER and mitochondria, as well as for the integrity of ER-mitochondria contacts. Loss of SEPN1 is associated with alterations in body composition, muscle weakness, impaired ER-mitochondria contacts, and low ATP levels.
CELL DEATH AND DIFFERENTIATION
(2021)
Article
Clinical Neurology
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Oezkan Oezdemir, Hulya-Sevcan Daimagueler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joel Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Michael Hanna, Francesco Muntoni, Anna Sarkozy, Rahul Phadke, Ros Quinlivan, Emily C. Oates, Rolf Schroeder, Christian Thiel, Jens Reimann, Nicol Voermans, Corrie Erasmus, Erik-Jan Kamsteeg, Chaminda Konersman, Carla Grosmann, Shane McKee, Sandya Tirupathi, Steven A. Moore, Ekkehard Wilichowski, Elke Hobbiebrunken, Gabriele Dekomien, Isabelle Richard, Peter Van den Bergh, Cristina Dominguez-Gonzalez, Sebahattin Cirak, Ana Ferreiro, Heinz Jungbluth, Mathias Gautel
Summary: The diagnosis of TTN-related myopathies can be complicated due to overlap with other myopathies and TTN variants in control populations. This study identified key clinical and pathological features that can suggest TTN-related myopathies, and demonstrated the destabilizing nature of missense mutations associated with CMs. These findings suggest a potential therapeutic target for recessive titinopathies.
ACTA NEUROPATHOLOGICA
(2021)
Article
Mathematics
Ana M. Ferreiro, Enrico Ferri, Jose A. Garcia, Carlos Vazquez
Summary: This article introduces a methodology to select model points portfolios that reproduce the original life insurance policies portfolio while maintaining its market risk under a certain measure, using the LIBOR market model. By defining an appropriate risk functional and formulating the problem as a high-dimensional global optimization problem, a hybrid global optimization algorithm is proposed for efficient solution. Examples demonstrate the performance of a parallel multi-CPU implementation for evaluating the risk functional, as well as the efficiency of the hybrid Basin Hopping optimization algorithm to obtain the model points portfolio.
Review
Energy & Fuels
Paola Giudicianni, Valentina Gargiulo, Corinna Maria Grottola, Michela Alfe, Ana Isabel Ferreiro, Miguel Abreu Almeida Mendes, Massimo Fagnano, Raffaele Ragucci
Summary: The main drawback of using biomass as pyrolysis feedstock is the huge variability of different biomass resources, particularly due to inherent inorganic elements like AAEMs. Experimental investigations on the interactions between these elements and biomass organic fraction during pyrolysis are still debated. Analyzing possible experimental inconsistencies paves the way for modifying existing models to capture the effect of inorganics on pyrolysis kinetics.
Review
Cell Biology
Ester Zito, Ana Ferreiro
Summary: SEPN1, a glycoprotein located in the ER, modulates the activity of the SERCA pump by sensing calcium levels, affecting the calcium regulation and ATP production in both ER and mitochondria. SEPN1-related myopathy is characterized by muscle weakness and disorganization of mitochondria and sarcomeres.
Review
Biochemistry & Molecular Biology
Justine Meunier, Rocio-Nur Villar-Quiles, Isabelle Duband-Goulet, Ana Ferreiro
Summary: Defects in transcriptional and cell cycle regulation have been identified as new pathophysiological mechanisms in congenital neuromuscular disease, with mutations in the TRIP4 and ASCC1 genes. The ASC-1 complex, of which ASCC1 is a subunit, plays a role in transcriptional regulation and its defects are associated with various genetic disorders affecting muscle and motor neurons.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Rezlene Bargui, Audrey Solgadi, Bastien Prost, Melanie Chester, Ana Ferreiro, Jerome Piquereau, Maryline Moulin
Summary: Phospholipids are essential for cellular life, playing key roles in cell compartmentation and various cellular processes. Advances in phospholipid detection and identification methods are helping to understand their pivotal role in life processes. Imbalance in phospholipid homeostasis is linked to human diseases, particularly those with muscular phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Valerie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Melanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, Francois Jerome Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Pereon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Megane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Faure, Johann Bohm
Summary: The recurrent RYR1 mutation previously classified as VUS was found in thirteen patients from nine unrelated congenital myopathy families with consistent clinical presentation, providing evidence of its pathogenicity. This mutation causes an atypical congenital myopathy with slowly improving motor function over the first decades of life, indicating a potential for directing molecular diagnosis for patients with similar clinical presentation.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Clinical Neurology
Rocio N. Villar-Quiles, Sandra Donkervoort, Alix de Becdelievre, Corine Gartioux, Valerie Jobic, A. Reghan Foley, Riley M. McCarty, Ying Hu, Rita Menassa, Laurence Michel, Gaelle Gousse, Arnaud Lacour, Philippe Petiot, Nathalie Streichenberger, Ariane Choumert, Lea Declerck, J. A. Urtizberea, Guilhem Sole, Alain Furby, Matthieu Cerino, Martin Krahn, Emmanuelle Campana-Salort, Ana Ferreiro, Bruno Eymard, Carsten G. Bonnemann, Diana Bharucha-Goebel, Charlotte J. Sumner, Anne M. Connolly, Pascale Richard, Valerie Allamand, Corinne Metay, Tanya Stojkovic
Summary: This study identified distinct phenotypical and secretion patterns associated with the COL6A3 missense variant c.7447A>G among 16 patients. Patients with compound heterozygosity for this variant exhibited typical COL6-RM features, while homozygous patients showed variability in clinical and imaging findings.
JOURNAL OF NEUROMUSCULAR DISEASES
(2021)
Article
Pathology
Aurelien Perrin, Charles Van Goethem, Corinne Theze, Jacques Puechberty, Thomas Guignard, Berenice Lecardonnel, Delphine Lacourt, Corinne Metay, Arnaud Isapof, Sandra Whalen, Ana Ferreiro, Marie-Christine Arne-Bes, Susana Quijano-Roy, Juliette Nectoux, France Leturcq, Pascale Richard, Marion Larrieux, Anne Bergougnoux, Franck Pellestor, Michel Koenig, Mireille Cossee
Summary: Titin protein is responsible for muscle elasticity, and variants in TTN gene lead to different phenotypic spectrum and inheritance. The implementation of third-generation sequencing technology can improve the diagnosis and offer relative analysis.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2022)
Article
Cell Biology
Coralie Hakibilen, Florence Delort, Marie-Therese Daher, Pierre Joanne, Eva Cabet, Olivier Cardoso, Fany Bourgois-Rocha, Cuixia Tian, Eloy Rivas, Marcos Madruga, Ana Ferreiro, Alain Lilienbaum, Patrick Vicart, Onnik Agbulut, Sylvie Henon, Sabrina Batonnet-Pichon
Summary: This study reveals a novel role for desmin in cell-matrix adhesion, affecting focal adhesion area and adhesion-signaling gene expression. Knock-out and knock-in-p.R405W mice showed reduced adhesive abilities and increased migration speed of satellite cells. Mislocalization and aggregation of vinculin were observed in DesKO and DesKI-R405W muscles, and increased vinculin expression was found in desmin-related myopathy patient muscles.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Editorial Material
Clinical Neurology
Alexandra Breukel, Raffaella Willmann, Kate Adcock, Alexandre Mejat, Ingeborg Meijer, Ana Ferreiro
NEUROMUSCULAR DISORDERS
(2023)
Article
Cell Biology
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Francoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Reant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Summary: A missense variant of the TMPO/LAP2 alpha gene has been linked to cardiomyopathy. This study identified three novel rare TMPO heterozygous variants in hypertrophic or dilated cardiomyopathy patients. The variants were found to alter cell proliferation, chromatin structure, and gene expression-regulation pathways.
Article
Biochemistry & Molecular Biology
Rezlene Bargui, Audrey Solgadi, Florent Dumont, Bastien Prost, Nathalie Vadrot, Anne Filipe, Andrew T. V. Ho, Ana Ferreiro, Maryline Moulin
Summary: Growing evidence suggests that the lipid bilayer plays a critical role in membrane interactions and signal transduction. However, the study of phospholipids in skeletal muscles is limited, despite their association with muscular diseases. In this study, we used mass spectrometry to analyze the phospholipid profiles in the diaphragm of wild type and SelenoN knock-out mice. We found significant differences in phospholipid composition between male and female mice, as well as age-related differences. The absence of SELENON protein resulted in a remodeling of phospholipid content, with distinct patterns observed in males and females. These findings provide insights into the role of phospholipids in muscular diseases and aging.
Article
Computer Science, Interdisciplinary Applications
Ana Maria Ferreiro-Ferreiro, Jose A. Garcia-Rodriguez, Luis Souto, Carlos Vazquez
MATHEMATICS AND COMPUTERS IN SIMULATION
(2020)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)