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Eur J Neurol 2021 May 7. Epub 2021 May 7.

Charité - Universitätsmedizin Berlin, Department of Neurology, Center for ALS, SMA and other Motor Neuron Disorders.

Objective: Investigation of treatment expectations and of the perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen.

Methods: A prospective, non-interventional observational study of nusinersen treatment in adult 5q-SMA patients was conducted at 9 SMA centers in Germany. The functional status, treatment expectations and perceived outcomes were assessed using the ALS Functional Rating Scale extended (ALS-FRS-ex), Measure Yourself Medical Outcome Profile (MYMOP2), Treatment Satisfaction Questionnaire for Medication (TSQM 9) and Net Promoter Score (NPS). Read More

Acta Naturae 2021 Jan-Mar;13(1):47-58

Institute of Gene Biology, Russian Academy of Sciences, Moscow, 119334 Russia.

Many genetic diseases that are responsible for muscular disorders have been described to date. Gene replacement therapy is a state-of-the-art strategy used to treat such diseases. In this approach, the functional copy of a gene is delivered to the affected tissues using viral vectors. Read More

Front Physiol 2021 20;12:673404. Epub 2021 Apr 20.

Departamento de Biología Celular y Molecular, Center for Aging and Regeneration (CARE-ChileUC), Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.

Normal skeletal muscle functions are affected following trauma, chronic diseases, inherited neuromuscular disorders, aging, and cachexia, hampering the daily activities and quality of life of the affected patients. The maladaptive accumulation of fibrous intramuscular connective tissue and fat are hallmarks of multiple pathologies where chronic damage and inflammation are not resolved, leading to progressive muscle replacement and tissue degeneration. Muscle-resident fibro-adipogenic progenitors are adaptable stromal cells with multilineage potential. Read More

Rheumatology (Oxford) 2021 May 6. Epub 2021 May 6.

Institute of Rheumatology, Prague, Czech Republic.

Objectives: To date, there is almost no information concerning the sexual health of patients with idiopathic inflammatory myopathies (IIM). This cross-sectional study aimed to compare sexual function in patients with IIM to age-/sex-matched healthy controls (HC) and determine the potential impact of clinical features on sexual function.

Methods: In total, 122 women (61 with IIM, 61 age-matched HC) and 22 men (11 with IIM, 11 age-matched HC) aged 18-80 years completed gender specific selection of 11 well-established and validated questionnaires assessing sexual health and function (Female Sexual Function Index, Brief Index of Sexual Function for Women, Sexual Function Questionnaire, Sexual Quality of Life Questionnaire-Female, International Index of Erectile Function, Male Sexual Health Questionnaire, Sexual Quality of Life Questionnaire-Male). Read More

J Cachexia Sarcopenia Muscle 2021 May 6. Epub 2021 May 6.

Guangdong Provincial Key Laboratory of Microbial Culture Collection and Application, State Key Laboratory of Applied Microbiology Southern China, Institute of Microbiology, Guangdong Academy of Sciences, Guangzhou, China.

Background: Satellite cells (SCs) are critical to skeletal muscle regeneration. Inactivation of SCs is linked to skeletal muscle loss. Transferrin receptor 1 (Tfr1) is associated with muscular dysfunction as muscle-specific deletion of Tfr1 results in growth retardation, metabolic disorder, and lethality, shedding light on the importance of Tfr1 in muscle physiology. Read More

Genetics 2019 Oct;213(2):685-703

Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114.

Structural maintenance of chromosomes flexible hinge domain-containing l (SMCHDl) is an architectural factor critical for X chromosome inactivation (XCI). In mice, loss of all Smchdl causes female-specific embryonic lethality due to an XCI defect. However. Read More

Genetics 2019 Oct;213(2):685-703

Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114.

Structural maintenance of chromosomes flexible hinge domain-containing l (SMCHDl) is an architectural factor critical for X chromosome inactivation (XCI). In mice, loss of all Smchdl causes female-specific embryonic lethality due to an XCI defect. However. Read More

Pharmacol Res Perspect 2021 May;9(3):e00755

Department of Pediatrics and Neurology, University of Pennsylvania, Philadelphia, PA, USA.

Friedreich ataxia is an autosomal recessive, neurodegenerative disease characterized by the deficiency of the iron-sulfur cluster assembly protein frataxin. Loss of this protein impairs mitochondrial function. Mitochondria alter their morphology in response to various stresses; however, such alterations to morphology may be homeostatic or maladaptive depending upon the tissue and disease state. Read More

ACS Chem Neurosci 2021 May 5. Epub 2021 May 5.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK.

Neuromuscular diseases result in muscle weakness, disability, and, in many instances, death. Preclinical models form the bedrock of research into these disorders, and the development of and potentially translational biomarkers for the accurate identification of disease is crucial. Spontaneous Raman spectroscopy can provide a rapid, label-free, and highly specific molecular fingerprint of tissue, making it an attractive potential biomarker. Read More

J Clin Endocrinol Metab 2021 May 5. Epub 2021 May 5.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

Background: Prader-Willi Syndrome (PWS) is a rare, genetic, multi-symptom, neurodevelopmental disease, due to lack of the expression of the paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. Read More

Curr Med Chem 2021 May 3. Epub 2021 May 3.

Institute of Biochemistry and Cell Biology, Section of Neurobiology, (IBBC-CNR), Rome. Italy.

The Mediterranean diet is worldwide recognized as a good prototype of nutrition due to the conspicuous intake of olive oil, nuts, red wine, legumes, fruit, and vegetables, all fundamental elements rich in antioxidant substances and polyphenols. Polyphenols are a wide range of phytochemicals and/or synthetic chemical compounds with proven beneficial properties for human health. In the present review, we critically summarize the well-characterized antioxidant and anti-inflammatory properties of polyphenols contained in the olives and extra virgin olive oil and of resveratrol, a non-flavonoid phenolic compound. Read More

Respir Res 2021 May 4;22(1):138. Epub 2021 May 4.

Department of Pulmonary Rehabilitation, Philipps-University of Marburg, German Center for Lung Research, Malterhoeh 1, 83471 Schoenau Am Koenigssee, Marburg, Germany.

Background: Whole-body vibration training (WBV) performed on a vibration platform can significantly improve physical performance in patients with chronic obstructive pulmonary disease. It has been suggested that an important mechanism of this improvement is based on an improvement in balance. Therefore, the aim of this study was to investigate the effects of WBV compared to conventional balance training. Read More

Biomedicines 2021 Apr 29;9(5). Epub 2021 Apr 29.

Biophytis, Sorbonne Université, BC9, 4 place Jussieu, 75005 Paris, France.

There is growing interest in the pharmaceutical and medical applications of 20-hydroxyecdysone (20E), a polyhydroxylated steroid which naturally occurs in low but very significant amounts in invertebrates, where it has hormonal roles, and in certain plant species, where it is believed to contribute to the deterrence of invertebrate predators. Studies in vivo and in vitro have revealed beneficial effects in mammals: anabolic, hypolipidemic, anti-diabetic, anti-inflammatory, hepatoprotective, etc. The possible mode of action in mammals has been determined recently, with the main mechanism involving the activation of the Mas1 receptor, a key component of the renin-angiotensin system, which would explain many of the pleiotropic effects observed in the different animal models. Read More

Semin Arthritis Rheum 2021 Apr 16;51(3):576-587. Epub 2021 Apr 16.

Applied Physiology & Nutrition Research Group, School of Physical Education and Sport, Rheumatology Division, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, SP, Brazil. Laboratory of Assessment and Conditioning in Rhematology, Faculdade de Medicina FMUSP, Disciplina de Reumatologia, Universidade de Sao Paulo, Sao Paulo, SP, Brazil Av. Dr. Arnaldo, 455, ZIP code: 01246-903, Sao Paulo-SP, Brazil; Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

Introduction: Physical activity (PA) has been receiving increasing interest in recent years as an adjuvant therapy for autoimmune rheumatic disease (ARDs), but there is scarce information about the efficacy of home-based PA for patients with ARDs.

Objective: To perform a systematic review and meta-analysis on the efficacy of home-based physical activity (PA) interventions in improving health-related quality of life, functional capacity, pain, and disease activity in patients with ARDs.

Methods: Searches were performed in PubMed, Web of Science, Scopus, Cochrane, CINAHL database and Sport Discus. Read More

J Community Genet 2021 May 4. Epub 2021 May 4.

Genomics and Biomarkers Unit, National Institute for Health and Welfare, Helsinki, Finland.

Semin Cell Dev Biol 2021 Apr 30. Epub 2021 Apr 30.

Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA; Harvard Stem Cell Institute, Boston, MA, USA. Electronic address:

Human pluripotent stem cells (PSCs), which have the capacity to self-renew and differentiate into multiple cell types, offer tremendous therapeutic potential and invaluable flexibility as research tools. Recently, remarkable progress has been made in directing myogenic differentiation of human PSCs. The differentiation strategies, which were inspired by our knowledge of myogenesis in vivo, have provided an important platform for the study of human muscle development and modeling of muscular diseases, as well as a promising source of cells for cell therapy to treat muscular dystrophies. Read More

Eur J Paediatr Neurol 2021 Apr 20;32:115-121. Epub 2021 Apr 20.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminopathies. This paper reports clinical presentation of the disease in 15 Polish patients from 13 families with genetically confirmed skeletal muscle laminopathy. In all these patients floppy infant syndrome was the first manifestation of the disease. Read More

Mol Ther 2021 Apr 30. Epub 2021 Apr 30.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U1258, Université de Strasbourg, 67404 Illkirch, France. Electronic address:

Omics analyses are powerful methods to obtain an integrated view of complex biological processes, disease progression or therapy efficiency. However, few studies have compared different disease forms and different therapy strategies to define the common molecular signatures representing the most significant implicated pathways. Here, we used RNA sequencing and mass spectrometry data to profile the transcriptomes and proteomes of mouse models for three forms of centronuclear myopathies (CNM), untreated or treated with either a drug (tamoxifen), antisense oligonucleotides reducing the level of dynamin 2 (DNM2), or following modulation of dynamin 2 or amphiphysin 2 (BIN1) through genetic crosses. Read More

Ideggyogy Sz 2021 Mar;74(3-4):135-138

Department of Medical Genetics, Bezmialem Vakif University Istanbul, Turkey.

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal failure. Read More

Front Cell Dev Biol 2021 13;9:662837. Epub 2021 Apr 13.

Sorbonne University, INSERM, Institute of Myology, Center of Research in Myology, Paris, France.

The reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) represents a major advance for the development of human disease models. The emerging of this technique fostered the concept of "disease in a dish," which consists into the generation of patient-specific models . Currently, iPSCs are used to study pathological molecular mechanisms caused by genetic mutations and they are considered a reliable model for high-throughput drug screenings. Read More

Exp Ther Med 2021 Jun 14;21(6):610. Epub 2021 Apr 14.

Laboratory of Cell Biology, Neuroscience and Experimental Myology, 'Victor Babes' National Institute of Pathology, 050096 Bucharest, Romania.

The muscular dystrophies are a heterogeneous group of genetically inherited diseases characterized by muscle weakness and progressive wasting, which can cause premature death in severe forms. Although >30 years have passed since the identification of the first protein involved in a type of muscular dystrophy, there is no effective treatment for these disabling disorders. In the last decade, several novel therapeutic approaches have been developed and investigated as promising therapeutic approaches aimed to ameliorate the dystrophic phenotype either by restoring dystrophin expression or by compensating for dystrophin deficiency. Read More

Front Genet 2021 16;12:657040. Epub 2021 Apr 16.

Running Gene Inc., Beijing, China.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two subtypes of muscular dystrophy diseases caused by pathogenic mutations in the gene. Until now, more than 4,600 disease-causing mutations in have been reported. However, only 33 mutations were deep intronic, cases with this type of mutations were limited. Read More

J Inherit Metab Dis 2021 May 2. Epub 2021 May 2.

Copenhagen Neuromuscular Center, Rigshospitalet, University hospital, Copenhagen, Denmark.

Context: Mitochondrial myopathies (MM) are caused by mutations that typically affect genes involved in oxidative phosphorylation. Main symptoms are exercise intolerance and fatigue. Currently, there is no specific treatment for MM. Read More

Clin Rheumatol 2021 May 1. Epub 2021 May 1.

Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No. 5 Donghai Middle Road, Qingdao, Shandong Province, 266071, China.

Objective: Idiopathic inflammatory myopathies (IIM) are a group of chronic rheumatic diseases that can affect multiple systems; the risk of ischemic stroke in patients with IIM remains controversial. We aimed to systematically evaluate the risk of ischemic stroke in IIMs.

Methods: The PubMed, Embase, and Cochrane library were searched for relevant studies. Read More

Cell Calcium 2021 Apr 27;97:102415. Epub 2021 Apr 27.

Research Group Regulatory Mechanisms of Inflammation, Center for Molecular Biology of Inflammation (ZMBE) and Cells in Motion Interfaculty Center (CiM), University of Muenster, Muenster, Germany. Electronic address:

ANO5/TMEM16E gene mutations are associated with myopathies. Two recent publications in the Journal of Cell Biology now both confirm that ANO5 deficiency results in defective plasma membrane repair and Ca overload. But the big question is whether ANO5 acts at the plasma membrane or the endoplasmic reticulum. Read More

CNS Neurosci Ther 2021 May 1. Epub 2021 May 1.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Aims: To characterize the clinical and histopathological characteristics and treatment outcomes of juvenile idiopathic inflammatory myopathies (JIIMs) with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies in a Chinese cohort.

Methods: We detected anti-HMGCR antibodies in a series of Chinese JIIM by ELISA and indirect immunofluorescence assay on HEK293 cells, and summarized the clinical findings of these anti-HMGCR antibody-positive patients.

Results: Of 32 JIIM patients, 5 (15. Read More

Physiol Rep 2021 Apr;9(8):e14791

Musculoskeletal Science & Sports Medicine Research Centre, Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.

Neuromuscular junction (NMJ) research is vital to advance the understanding of neuromuscular patho-physiology and development of novel therapies for diseases associated with NM dysfunction. In vivo, the micro-environment surrounding the NMJ has a significant impact on NMJ formation and maintenance via neurotrophic and differentiation factors that are secreted as a result of cross-talk between muscle fibers and motor neurons. Recently we showed the formation of functional NMJs in vitro in a co-culture of immortalized human myoblasts and motor neurons from rat-embryo spinal-cord explants, using a culture medium free from serum and neurotrophic or growth factors. Read More

Mol Cell 2021 Apr 23. Epub 2021 Apr 23.

Max Perutz Labs, Medical University of Vienna, Vienna BioCenter (VBC), Dr. Bohr-Gasse 9/2, 1030 Vienna, Austria. Electronic address:

The tRNA ligase complex (tRNA-LC) splices precursor tRNAs (pre-tRNA), and Xbp1-mRNA during the unfolded protein response (UPR). In aerobic conditions, a cysteine residue bound to two metal ions in its ancient, catalytic subunit RTCB could make the tRNA-LC susceptible to oxidative inactivation. Here, we confirm this hypothesis and reveal a co-evolutionary association between the tRNA-LC and PYROXD1, a conserved and essential oxidoreductase. Read More

JMIR Mhealth Uhealth 2021 Apr 30;9(4):e22487. Epub 2021 Apr 30.

Physiologie-Explorations Fonctionnelles, Fédération Hospitalo-Universitaire APOLLO (Personalised medicine in chronic cardiovascular, respiratory, renal diseases and organ transplantation), Hôpital Bichat Claude Bernard, Assistance Publique Hôpitaux de Paris, Paris, France.

Background: Smart scales are increasingly used at home by patients to monitor their body weight and body composition, but scale accuracy has not often been documented.

Objective: The goal of the research was to determine the accuracy of 3 commercially available smart scales for weight and body composition compared with dual x-ray absorptiometry (DEXA) as the gold standard.

Methods: We designed a cross-sectional study in consecutive patients evaluated for DEXA in a physiology unit in a tertiary hospital in France. Read More

Acta Neuropathol Commun 2021 Apr 29;9(1):79. Epub 2021 Apr 29.

Department of Neurology, Mayo Clinic, 200 1st St SW, Rochester, MN, 55905, USA.

The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in MYH2 lead to congenital myopathy clinically featured by ophthalmoparesis and predominantly proximal weakness. MYH2-myopathy is pathologically characterized by loss and atrophy of type 2A fibers. Read More