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Molecular Research on Skeletal Muscle Diseases
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Molecular Research on Skeletal Muscle Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 February 2025 | Viewed by 5548

Special Issue Editors

Dr. Olga Karpicheva

E-Mail Website
Guest Editor
Department of Pharmacology, Physiology & Biophysics, Boston University, Boston, MA 02118-2526, USA
Interests: skeletal muscle diseases; tropomyosin mutations; contractile dysfunction; therapeutic approaches
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Yurii Borovikov

E-Mail Website
Guest Editor
Institute of Cytology, Russian Academy of Sciences, Petersburg 194064, Russia
Interests: congenital myopathy; molecular mechanisms of muscle contraction; muscle proteins; polarized microfluorimetry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The elucidation of the molecular mechanisms of muscle contraction in health and diseases is one of the priority tasks of biology. The disturbance of actin–myosin interaction and its regulation, underlying muscle contraction, is the cause of severe diseases that extremely negatively affect the quality of human life. At present, the molecular mechanisms of the onset of muscle weakness and atrophy, which is typical for most skeletal muscle diseases, are completely insufficiently studied. Therapeutic approaches to eliminate muscle weakness and restore the contractile function of skeletal muscles have not been developed and are still limited to orthopedic correction, exercises, and physiotherapy. Understanding the primary causes of muscle weakness is necessary for the early diagnosis and prognosis of the disease, as well as for the development of therapeutic approaches to rehabilitate contractile function. The purpose of this Special Issue is to summarize new data on the functional consequences of mutant toxic proteins and pathological processes in the sarcomere, to elucidate the relationship between pathological events occuring in the sarcomere and disease phenotypes, and to identify targets for action in order to correct muscle dysfunction.

Topics include, but are not limited to, the following:

  • Study of the structural and functional consequences of the mutations associated with various skeletal muscle diseases;
  • Identification of impaired protein–protein interactions and analyses of further pathways of contractile dysfunction;
  • Identification of targets for restoring normal skeletal muscle function;
  • Searching for and testing of potential drugs for the treatment of muscle diseases.

Authors are invited to contribute to this Special Issue, which will publish priority research clarifying the molecular mechanisms of skeletal muscle dysfunction.

Dr. Olga Karpicheva
Prof. Dr. Yurii Borovikov
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • muscle contraction
  • calcium regulation
  • desease-causing mutations
  • cross-bridge cycling and kinetics
  • thin filament
  • ATPase activity
  • actin–myosin interaction
  • therapeutic approaches

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Published Papers (4 papers)

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Research

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12 pages, 2218 KiB  
Article
Levosimendan’s Effects on Length-Dependent Activation in Murine Fast-Twitch Skeletal Muscle
by Michael Haug, Mena Michael, Paul Ritter, Larisa Kovbasyuk, Maria Eleni Vazakidou and Oliver Friedrich
Int. J. Mol. Sci. 2024, 25(11), 6191; https://doi.org/10.3390/ijms25116191 - 4 Jun 2024
Viewed by 870
Abstract
Levosimendan’s calcium sensitizing effects in heart muscle cells are well established; yet, its potential impact on skeletal muscle cells has not been evidently determined. Despite controversial results, levosimendan is still expected to interact with skeletal muscle through off-target sites (further than troponin C). [...] Read more.
Levosimendan’s calcium sensitizing effects in heart muscle cells are well established; yet, its potential impact on skeletal muscle cells has not been evidently determined. Despite controversial results, levosimendan is still expected to interact with skeletal muscle through off-target sites (further than troponin C). Adding to this debate, we investigated levosimendan’s acute impact on fast-twitch skeletal muscle biomechanics in a length-dependent activation study by submersing single muscle fibres in a levosimendan-supplemented solution. We employed our MyoRobot technology to investigate the calcium sensitivity of skinned single muscle fibres alongside their stress–strain response in the presence or absence of levosimendan (100 µM). While control data are in agreement with the theory of length-dependent activation, levosimendan appears to shift the onset of the ‘descending limb’ of active force generation to longer sarcomere lengths without notably improving myofibrillar calcium sensitivity. Passive stretches in the presence of levosimendan yielded over twice the amount of enlarged restoration stress and Young’s modulus in comparison to control single fibres. Both effects have not been described before and may point towards potential off-target sites of levosimendan. Full article
(This article belongs to the Special Issue Molecular Research on Skeletal Muscle Diseases)
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17 pages, 6206 KiB  
Article
A Novel Minimally Invasive Surgically Induced Skeletal Muscle Injury Model in Sheep
by Laura Vidal, Ingrid Vila, Vanesa Venegas, Anabel Sacristán, Paola Contreras-Muñoz, Maria Lopez-Garzon, Carles Giné, Gil Rodas and Mario Marotta
Int. J. Mol. Sci. 2024, 25(11), 5612; https://doi.org/10.3390/ijms25115612 - 21 May 2024
Viewed by 1237
Abstract
Sports-related muscle injuries account for 10–55% of all injuries, which is a growing concern, especially given the aging world population. To evaluate the process of skeletal muscle injury and compare it with muscle lesions observed in humans, we developed a novel in vivo [...] Read more.
Sports-related muscle injuries account for 10–55% of all injuries, which is a growing concern, especially given the aging world population. To evaluate the process of skeletal muscle injury and compare it with muscle lesions observed in humans, we developed a novel in vivo model in sheep. In this model, muscle injury was induced by an ultrasound-guided transverse biopsy at the myotendinous junction of the medial gastrocnemius muscle. Twelve male sheep were examined at 3, 7, 14, and 28 days post-injury. Histological, immunofluorescence, and MRI analyses indicate that our sheep model could resemble key human clinicopathological features. Statistically significant differences (p < 0.05) were observed in collagen I, dMHC, α-SMA, and CD68 immunohistochemical detection when comparing injured and healthy muscles. The injured gastrocnemius muscle exhibited elevated levels of type I collagen, infiltration of CD68(+) macrophages, angiogenesis, and the emergence of newly regenerated dMHC(+) myofibers, which persisted for up to 4 weeks post-injury. Similarly, the progression of muscle injury in the sheep model was assessed using advanced clinical 3 T MRI and compared with MRI scans from human patients. The data indicate that the sheep muscle injury model presents features similar to those observed in human skeletal muscle injuries. This makes it a valuable large animal model for studying muscle injuries and developing novel therapeutic strategies. Full article
(This article belongs to the Special Issue Molecular Research on Skeletal Muscle Diseases)
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15 pages, 5390 KiB  
Article
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
by Katarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I. Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Ashirwad Merve, Matthew Parton, Enrico Bugiardini, Charlotte de Bie and Joanna Moraczewska
Int. J. Mol. Sci. 2023, 24(22), 16147; https://doi.org/10.3390/ijms242216147 - 9 Nov 2023
Viewed by 1222
Abstract
A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families. TPM3 encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The patients presented with slowly progressive muscle weakness [...] Read more.
A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families. TPM3 encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The patients presented with slowly progressive muscle weakness associated with Achilles tendon contractures of early childhood onset. Histopathology revealed features consistent with a nemaline rod myopathy. Biochemical in vitro assays performed with reconstituted thin filaments revealed defects in the assembly of the thin filament and regulation of actin–myosin interactions. The substitution p.Glu3Gly increased polymerization of Tpm3.12, but did not significantly change its affinity to actin alone. Affinity of Tpm3.12 to actin in the presence of troponin ± Ca2+ was decreased by the mutation, which was due to reduced interactions with troponin. Altered molecular interactions affected Ca2+-dependent regulation of the thin filament interactions with myosin, resulting in increased Ca2+ sensitivity and decreased relaxation of the actin-activated myosin ATPase activity. The hypercontractile molecular phenotype probably explains the distal joint contractions observed in the patients, but additional research is needed to explain the relatively mild severity of the contractures. The slowly progressive muscle weakness is most likely caused by the lack of relaxation and prolonged contractions which cause muscle wasting. This work provides evidence for the pathogenicity of the TPM3 c.8A > G variant, which allows for its classification as (likely) pathogenic. Full article
(This article belongs to the Special Issue Molecular Research on Skeletal Muscle Diseases)
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Review

Jump to: Research

12 pages, 4633 KiB  
Review
Radiopharmaceuticals for Skeletal Muscle PET Imaging
by Joo Yeon Park, Sun Mi Park, Tae Sup Lee, Seo Young Kang, Ji-Young Kim, Hai-Jeon Yoon, Bom Sahn Kim and Byung Seok Moon
Int. J. Mol. Sci. 2024, 25(9), 4860; https://doi.org/10.3390/ijms25094860 - 29 Apr 2024
Cited by 1 | Viewed by 1243
Abstract
The skeletal muscles account for approximately 40% of the body weight and are crucial in movement, nutrient absorption, and energy metabolism. Muscle loss and decline in function cause a decrease in the quality of life of patients and the elderly, leading to complications [...] Read more.
The skeletal muscles account for approximately 40% of the body weight and are crucial in movement, nutrient absorption, and energy metabolism. Muscle loss and decline in function cause a decrease in the quality of life of patients and the elderly, leading to complications that require early diagnosis. Positron emission tomography/computed tomography (PET/CT) offers non-invasive, high-resolution visualization of tissues. It has emerged as a promising alternative to invasive diagnostic methods and is attracting attention as a tool for assessing muscle function and imaging muscle diseases. Effective imaging of muscle function and pathology relies on appropriate radiopharmaceuticals that target key aspects of muscle metabolism, such as glucose uptake, adenosine triphosphate (ATP) production, and the oxidation of fat and carbohydrates. In this review, we describe how [18F]fluoro-2-deoxy-D-glucose ([18F]FDG), [18F]fluorocholine ([18F]FCH), [11C]acetate, and [15O]water ([15O]H2O) are suitable radiopharmaceuticals for diagnostic imaging of skeletal muscles. Full article
(This article belongs to the Special Issue Molecular Research on Skeletal Muscle Diseases)
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