Article
Multidisciplinary Sciences
Elena Kudryashova, Ankita, Heidi Ulrichs, Shashank Shekhar, Dmitri S. Kudryashov
Summary: According to the cellular actin dynamics paradigm, filaments grow at their barbed ends and depolymerize predominantly from their pointed ends to form polar structures. However, it has been discovered that under the influence of Vibrio VopF/L toxins, actin can elongate at the pointed end. In cells, factors blocking the pointed ends inhibit the movement of VopF/L speckles. Single-molecule imaging has confirmed that VopF molecules associate with the pointed end and actively promote its elongation. This ability of VopF/L to break the actin cytoskeleton's polarity can have significant implications for cellular actin organization.
Article
Multidisciplinary Sciences
Lauren E. Schultz, Mert Colpan, Garry E. Smith Jr, Rachel M. Mayfield, Tania M. Larrinaga, Alla S. Kostyukova, Carol C. Gregorio
Summary: Actin, a highly expressed protein in eukaryotic cells, plays a vital role in cellular processes. This study found that a mutation in the Lmod3 protein disrupts its structure and function, leading to the development of muscle diseases.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Multidisciplinary Sciences
Zhexin Wang, Michael Grange, Sabrina Pospich, Thorsten Wagner, Ay Lin Kho, Mathias Gautel, Stefan Raunser
Summary: This study reveals the structure of nebulin bound to thin filaments and demonstrates its stabilizing role. It also highlights the different interactions of nebulin with actin and myosin, as well as its interaction with a troponin T linker, explaining its regulatory function.
Article
Biochemistry & Molecular Biology
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Summary: Nemaline myopathy in Brazilian patients shows significant clinical and genetic heterogeneity, with a high frequency of NEB gene mutations. There is noticeable variability in clinical presentation and MRI patterns, with respiratory involvement often being severe.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Johan Lindqvist, Henk Granzier
Summary: Nemaline myopathy is a common congenital myopathy with no approved treatments. Inhibiting myostatin can mitigate muscle deficits in this disease, potentially serving as a therapeutic option.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Hongbin Yu, Du He, Qing Zhang, Bei Cao, Weiping Liu, Yu Wu
Summary: MGCS-associated myopathy is a rare muscular disorder that is often misdiagnosed or diagnosed late. Comprehensive screening for MGCS is crucial to prevent misdiagnosis or delayed diagnosis.
FRONTIERS IN ONCOLOGY
(2022)
Article
Genetics & Heredity
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, Jakob Matschke, Feizhi Song, Hermann Clemens Altmeppen, Kerstin Kutsche
Summary: Nemaline myopathies (NEMs) are a genetically and clinically heterogeneous group of diseases caused by mutations in the TNNT1 gene. We report a 2-year-old patient and his mother carrying the TNNT1 p.(Asp65Ala) mutation, both of whom showed muscle hypotrophy and weakness. Our study provides evidence for the pathogenicity of this mutation.
Article
Clinical Neurology
Paulo Ribeiro Nobrega, Jorge Luiz de Brito de Souza, Rebeca Bessa Mauricio, Anderson Rodrigues Brandao de Paiva, Daniel Aguiar Dias, Clara Gontijo Camelo, Edmar Zanotelli, David Schlesinger, Pedro Braga-Neto, Cristiane Araujo Martins Moreno
Summary: We report two cases of nemaline myopathy with pronounced central nervous system involvement and novel facial and skeletal dysmorphic findings, possibly expanding the disease phenotype.
NEUROLOGICAL SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Yun Liu, Weichun Lin
Summary: The study found that mutations in the Acta1 gene in the muscle can lead to morphological and functional defects in the neuromuscular junction (NMJ).
HUMAN MOLECULAR GENETICS
(2023)
Article
Clinical Neurology
Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
Summary: This study used WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. The results showed that WiTNNess established a sound operational framework for future clinical trials.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Martijn van de Locht, Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon Begthel, Benno Kusters, Payam Mohassel, Ying Hu, Livija Medne, Colin Quinn, Steven A. Moore, A. Reghan Foley, Gwimoon Seo, Darren T. Hwee, Fady Malik, Thomas Irving, Weikang Ma, Henk L. Granzier, Erik-Jan Kamsteeg, Kalyan Immadisetty, Peter Kekenes-Huskey, Jose R. Pinto, Nicol Voermans, Carsten G. Bonnemann, Coen A. C. Ottenheijm
Summary: Pathogenic variants in TNNC2 have been identified to cause congenital muscle disease, leading to disruptions in Ca2+ binding sites and troponin I binding sites which result in reduced force response of sarcomeres. By replacing mutant TnC with wild-type TnC or using the troponin activator tirasemtiv, contractile dysfunction in patients' myofibers can be repaired, providing therapeutic potential for muscle contractility.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar
Summary: This study reports two Arab patients from consanguineous families diagnosed with different severities of nemaline myopathy. The clinical phenotype was linked to homozygous variants in NEB and KLHL40 genes. The study highlights the importance of detailed assessment in prenatal, neonatal, and infancy stages for accurate diagnosis and intervention of nemaline myopathy.
FRONTIERS IN GENETICS
(2023)
Review
Clinical Neurology
Kun Huang, Fang-Fang Bi, Huan Yang
Summary: This study estimated the prevalence of congenital myopathy through a systematic review and meta-analysis. The prevalence varied among different subtypes and populations. The overall quality of studies on this disease is generally moderate, emphasizing the need for higher-quality research on orphan diseases.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Katarzyna Robaszkiewicz, Malgorzata Siatkowska, Renske I. Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Ashirwad Merve, Matthew Parton, Enrico Bugiardini, Charlotte de Bie, Joanna Moraczewska
Summary: A novel variant in TPM3 was found in two unrelated families, causing progressive muscle weakness and Achilles tendon contractures. The variant led to defects in thin filament assembly and actin-myosin interactions, resulting in increased Ca2+ sensitivity and decreased relaxation of muscle.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Saif S. Alqassim
Summary: The actin cytoskeleton is essential for cellular processes, and various pathogens manipulate the infected host's actin dynamics for their own benefit. Understanding the mechanisms by which pathogens interact with and control actin assembly can provide insights into fundamental determinants of actin assembly and host-pathogen interactions, and contribute to therapeutic development efforts. This review focuses on the shared and unique features of pathogen effectors that directly bind and assemble actin.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)