Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies

Autor: Coralie Croissant, Charlotte Brévart, Romain Carmeille, Anthony Bouter
Přispěvatelé: Chimie et Biologie des Membranes et des Nanoobjets (CBMN), École Nationale d'Ingénieurs des Travaux Agricoles - Bordeaux (ENITAB)-Institut de Chimie du CNRS (INC)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), AFM-Téléthon
Jazyk: angličtina
Rok vydání: 2021
Předmět:
muscular dystrophy
Cell type
QH301-705.5
Muscle Fibers
Skeletal
Muscle Proteins
Review
Biology
Muscular Dystrophies
Catalysis
annexins
Inorganic Chemistry
Cell membrane
03 medical and health sciences
0302 clinical medicine
DMD
medicine
Humans
[SDV.BBM]Life Sciences [q-bio]/Biochemistry
Molecular Biology
Physical and Theoretical Chemistry
Muscular dystrophy
skeletal muscle
Biology (General)
Muscle
Skeletal
Molecular Biology
QD1-999
Spectroscopy
Annexin A1
030304 developmental biology
FSHD
0303 health sciences
Sarcolemma
Cell Membrane
Organic Chemistry
Membrane Proteins
Skeletal muscle
General Medicine
genetic modifiers
medicine.disease
Miyoshi Muscular Dystrophy 1
LGMD
Computer Science Applications
Cell biology
Chemistry
medicine.anatomical_structure
membrane repair
medicine.symptom
030217 neurology & neurosurgery
Muscle contraction
Limb-girdle muscular dystrophy
Zdroj: International Journal of Molecular Sciences, Vol 22, Iss 5276, p 5276 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (10), pp.5276. ⟨10.3390/ijms22105276⟩
ISSN: 1661-6596
1422-0067
DOI: 10.3390/ijms22105276⟩
Popis: International audience; Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are characterized by mutation in gene encoding key membrane-repair protein, which leads to severe dysfunctions in sarcolemma repair. Cell membrane disruption is a physiological event induced by mechanical stress, such as muscle contraction and stretching. Like many eukaryotic cells, muscle fibers possess a protein machinery ensuring fast resealing of damaged plasma membrane. Members of the annexins A (ANXA) family belong to this protein machinery. ANXA are small soluble proteins, twelve in number in humans, which share the property of binding to membranes exposing negatively-charged phospholipids in the presence of calcium (Ca2+). Many ANXA have been reported to participate in membrane repair of varied cell types and species, including human skeletal muscle cells in which they may play a collective role in protection and repair of the sarcolemma. Here, we discuss the participation of ANXA in membrane repair of healthy skeletal muscle cells and how dysregulation of ANXA expression may impact the clinical severity of muscular dystrophies.
Databáze: OpenAIRE
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