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JOURNAL ARTICLE
Thulashitha Rajasingham, Hector M Rodriguez, Andreas Betz, Douglas M Sproule, Uma Sinha
The cell membrane protein, dystroglycan, plays a crucial role in connecting the cytoskeleton of a variety of mammalian cells to the extracellular matrix. The α-subunit of dystroglycan (αDG) is characterized by a high level of glycosylation, including a unique O-mannosyl matriglycan. This specific glycosylation is essential for binding of αDG to extracellular matrix ligands effectively. A subset of muscular dystrophies, called dystroglycanopathies, are associated with aberrant, dysfunctional glycosylation of αDG...
April 18, 2024: Journal of Muscle Research and Cell Motility
#2
JOURNAL ARTICLE
Vasista Adupa, Elizaveta Ustyantseva, Harm H Kampinga, Patrick R Onck
DNAJB6b is a molecular chaperone of the heat shock protein network, shown to play a crucial role in preventing aggregation of several disease-related intrinsically disordered proteins. Using homology modeling and microsecond-long all-atom molecular dynamics (MD) simulations, we show that monomeric DNAJB6b is a transiently interconverting protein cycling between three states: a closed state, an open state (both abundant), and a less abundant extended state. Interestingly, the reported regulatory autoinhibitory anchor between helix V in the G/F1 region and helices II/III of the J-domain, which obstructs the access of Hsp70 to the J-domain remains present in all three states...
April 16, 2024: Nature Communications
#3
JOURNAL ARTICLE
Emily A McKaige, Clara Lee, Vanessa Calcinotto, Saveen Giri, Simon Crawford, Meagan J McGrath, Georg Ramm, Robert J Bryson-Richardson
Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic vacuoles, and aggregates. Whilst there are many reports of LGMD D1 patients, the role of DNAJB6 in the muscle is still unclear. In this study, we developed a loss of function zebrafish model in order to investigate the role of Dnajb6. Using a double dnajb6a and dnajb6b mutant model, we show that loss of Dnajb6 leads to a late onset muscle weakness...
April 15, 2024: Human Molecular Genetics
#4
JOURNAL ARTICLE
Lara Schlaffke, Robert Rehmann, Anne-Katrin Güttsches, Matthias Vorgerd, Christine H Meyer-Frießem, Hubert R Dinse, Elena Enax-Krumova, Martijn Froeling, Johannes Forsting
Background: Quantitative muscle MRI (qMRI) is a promising tool for evaluating and monitoring neuromuscular disorders (NMD). However, the application of different imaging protocols and processing pipelines restricts comparison between patient cohorts and disorders. In this qMRI study, we aim to compare dystrophic (limb-girdle muscular dystrophy), inflammatory (inclusion body myositis), and metabolic myopathy (Pompe disease) as well as patients with post-COVID-19 conditions suffering from myalgia to healthy controls...
March 28, 2024: Journal of Clinical Medicine
#5
REVIEW
Corrado Angelini, Alicia Aurora Rodríguez
The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (AR) LGMD evaluated by INQoL...
2024: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
#6
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Tanya Stojkovic, Luciano Merlini, Giacomo Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Taurina, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia H S Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Bertini, Francesco Muntoni, Carsten G Bönnemann
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint contractures and respiratory insufficiency, to Bethlem muscular dystrophy, with milder symptoms typically recognised later and at times resembling a limb girdle muscular dystrophy, and intermediate phenotypes falling between UCMD and Bethlem muscular dystrophy...
March 29, 2024: medRxiv
#7
JOURNAL ARTICLE
Ashlee M Long, Jason M Kwon, GaHyun Lee, Nina L Reiser, Lauren A Vaught, Joseph G O'Brien, Patrick G T Page, Michele Hadhazy, Joseph C Reynolds, Rachelle H Crosbie, Alexis R Demonbreun, Elizabeth M McNally
Extracellular matrix (ECM) pathologic remodeling underlies many disorders, including muscular dystrophy. Tissue decellularization removes cellular components while leaving behind ECM components. We generated "on-slide" decellularized tissue slices from genetically distinct dystrophic mouse models. The ECM of dystrophin- and sarcoglycan-deficient muscles had marked thrombospondin 4 deposition, while dysferlin-deficient muscle had excess decorin. Annexins A2 and A6 were present on all dystrophic decellularized ECMs, but annexin matrix deposition was excessive in dysferlin-deficient muscular dystrophy...
April 4, 2024: Matrix Biology: Journal of the International Society for Matrix Biology
#8
REVIEW
Jorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, Wasantha Ranatunga, Roberta Salinas-Marin, Ana María González-Jaimes, Katia Alejandra Castillo-Reyes, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Mireya Orozco-Vela, Sinhue Alejandro Brukman-Jiménez
The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developmental delay (GDD)/intellectual disability (ID), or even a congenital muscular dystrophy (CMD)...
March 28, 2024: Molecular Genetics and Metabolism
#9
JOURNAL ARTICLE
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal
BACKGROUND: Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of LGMD, therefore definite molecular diagnosis is required to understand the progression of this debilitating disease. This study aims to identify novel variants of CAPN3 gene in LGMDR1 patients. RESULTS: Thirty-four patients with clinical and histopathological features suggestive of LGMD were studied...
April 1, 2024: Orphanet Journal of Rare Diseases
#10
JOURNAL ARTICLE
Matthew Selwyn D'Costa, Enrico Bugiardini, Ashirwad Merve, Jasper M Morrow
PYROXD1 -associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent advancements in genetic sequencing have revolutionised the diagnostic classification process for LGMD and provided opportunities to establish diagnoses for previously unclassified myopathies...
March 29, 2024: BMJ Case Reports
#11
REVIEW
Saeed Anwar, Toshifumi Yokota
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We examine the phenotypic heterogeneity of dysferlinopathies, highlighting the incomplete understanding of genotype-phenotype correlations and discussing the implications of various DYSF mutations...
February 21, 2024: Biomolecules
#12
JOURNAL ARTICLE
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia
BACKGROUND: Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD. METHODS: We characterized a recessive LGMD in a young adult from consanguineous Irani families using whole-exome sequencing (WES) technology...
March 27, 2024: BMC Musculoskeletal Disorders
#13
JOURNAL ARTICLE
Shogo Komaki, Akatsuki Kubota, Kazuto Katsuse, Asuka Kitamura, Meiko Maeda, Takashi Matsukawa, Nobuyuki Eura, Yoshihiko Saito, Ichizo Nishino, Tatsushi Toda
Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo...
March 18, 2024: Internal Medicine
#14
JOURNAL ARTICLE
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D Mathews, Conrad C Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E Johnson
BACKGROUND: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. METHODS/DESIGN: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes...
March 15, 2024: BMC Neurology
#15
JOURNAL ARTICLE
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
OBJECTIVE: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). BACKGROUND: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystrophic findings on muscle biopsy. Heterozygous CAPN3 mutations are associated with autosomal dominant LGMD-4, while biallelic mutations can cause autosomal recessive LGMD-1. Diagnosis is currently often based on invasive methods requiring muscle biopsy or blood tests...
February 10, 2024: Cells
#16
JOURNAL ARTICLE
Stijn L M In 't Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C de Greef, W W M Pim Pijnappel
BACKGROUND: Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish disease-related readouts from random variability. The generation of genetically matched isogenic controls using gene editing can reduce variability, but the generation of isogenic hiPSC-derived 3D-TESMs can take up to 6 months, thereby reducing throughput...
February 22, 2024: Skeletal Muscle
#17
REVIEW
Divya Rao, Munia Ganguli
Rare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases...
2024: Journal of Biosciences
#18
JOURNAL ARTICLE
Pablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, Simon Bajew, Roberto Fernandez-Torrón, Ana Töpf, Álvaro Herrero-Reiriz, Diana Epure, Katharina Vill, Aurelio Hernández-Laín, María Manterola, Mikel Azkargorta, Oihane Pikatza-Menoio, Laura Pérez-Fernandez, Mikel García-Puga, Gisela Gaina, Alexandra Bastian, Ioana Streata, Maggie C Walter, Wolfgang Müller-Felber, Simone Thiele, Saioa Moragón, Nerea Bastida-Lertxundi, Aitziber López-Cortajarena, Felix Elortza, Gorka Gereñu, Sonia Alonso-Martin, Volker Straub, David de Sancho, Raluca Teleanu, Adolfo López de Munain, Lorea Blázquez
Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies where mutations in genes involved in RNA metabolism or characterised by alterations in RNA splicing have been described. Here, we present five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN gene. Snurportin-1, the protein encoded by SNUPN, plays an important role in the nuclear transport of small nuclear ribonucleoproteins (snRNPs), essential components of the spliceosome...
February 15, 2024: Brain
#19
JOURNAL ARTICLE
Gamze Sarıkaya Uzan, Ceren Yılmaz Uzman, Tayfun Çinleti, Çağatay Günay, Ayfer Ülgenalp, Semra Hız Kurul, Uluç Yiş
INTRODUCTION: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD. METHODS: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity...
February 2024: Molecular Syndromology
#20
JOURNAL ARTICLE
Lucas Augusto Hauschild, Taciana Seixas Maia da Silva, Pablo Brea Winckler, Laércio Moreira Cardoso-Júnior, Jonas Alex Morales Saute, Karina Carvalho Donis
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease, which presents an autosomal recessive inheritance and is marked by proximal muscle weakness. Even if uncommon, comorbid inherited pathologies must be considered in cases of atypical presentations, especially in those with family history of consanguinity...
February 2024: Molecular Syndromology
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