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Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Fascicles are bundles of muscle fibers in a skeletal muscle. Muscle fascicle arrangement is directly associated with the power and range of motion of various muscles. The configuration of these fascicles can vary, leading to different functional outcomes.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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De novo myogenesis, or the formation of muscle fibers, begins during the early embryonic stages. The skeletal muscle is formed from somites– blocks of embryonic cell layers. The somites are further divided into dermatomes, myotomes, sclerotomes, and syndetomes. Among these, the myotomes give rise to muscle fibers.
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Correction: Winter et al. Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis. <i>Cells</i> 2023, <i>12</i>, 1259.

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Tissue Triage and Freezing for Models of Skeletal Muscle Disease
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Muscle-Related Plectinopathies.

Michaela M Zrelski1, Monika Kustermann1, Lilli Winter1

  • 1Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, 1090 Vienna, Austria.

Cells
|September 28, 2021
PubMed
Summary
This summary is machine-generated.

Plectin gene (PLEC) mutations cause rare plectinopathies, including epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). PLEC defects lead to severe skeletal and cardiac muscle pathology, impacting myofibril organization and mitochondrial function.

Keywords:
desminintermediate filamentsmuscular dystrophymyopathologyplectinsarcomere structure

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Area of Science:

  • Cell Biology
  • Genetics
  • Muscle Physiology

Background:

  • Plectin is a crucial cytoskeletal protein stabilizing intermediate filaments.
  • Mutations in the plectin gene (PLEC) cause a spectrum of rare genetic disorders known as plectinopathies.
  • Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is the most common plectinopathy, characterized by skin blistering and progressive muscle weakness.

Purpose of the Study:

  • To review the clinical and pathological effects of PLEC mutations on skeletal and cardiac muscle.
  • To highlight the utility of genetically manipulated models in understanding PLEC deficiency.

Main Methods:

  • Analysis of skeletal muscle biopsies from EBS-MD patients and plectin-deficient mice.
  • Ultrastructural examination of muscle tissue.
  • Review of genetically manipulated mouse and cell models lacking plectin or specific isoforms.

Main Results:

  • PLEC mutations cause severe dystrophic features in skeletal muscle, including fiber size variation and myofibrillar disorganization.
  • Pathological findings include mitochondrial alterations, desmin aggregates, and disrupted sarcomere structure.
  • Ultrastructural analysis reveals Z- and I-band abnormalities, autophagic vacuoles, and cytoplasmic bodies.

Conclusions:

  • PLEC mutations lead to significant skeletal and cardiac muscle pathology.
  • Genetically engineered mouse and cell models are valuable for studying the molecular and functional consequences of PLEC defects.
  • Understanding these defects is key to developing therapeutic strategies for plectinopathies.