title: [Desmin filaments and their disorganization associated with myofibrillar myopathies].
abstract: Desmin, the muscle-specific intermediate filament protein, is one of the earliest markers expressed in all muscle tissues during development. It forms a three-dimensional scaffold around the myofibril Z-disc and connects the entire contractile apparatus to the subsarcolemmal cytoskeleton, the nuclei and other cytoplasmic organelles. Desmin is essential for tensile strength and muscle integrity. In humans, disorganization of the desmin network is associated with cardiac and/or skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Currently, 49 mutations have been identified in desmin gene. The majority of these mutations alter desmin filament assembly process through different molecular mechanisms and also its interaction with its protein partners. Here, we will give an overview of desmin network organization as well as the impact of desmin mutations on this process. Furthermore, we will discuss the different molecular mechanisms implicated in perturbation of the desmin filament assembly process.
authors: Université Paris Diderot, Sorbonne Paris Cité, France.
authors: Pierre
authors: P
authors: Joanne
authors: Oussama
authors: O
authors: Chourbagi
authors: Onnik
authors: O
authors: Agbulut
mesh_terms: D000595:Amino Acid Sequence; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D003893:Desmin / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009024:Morphogenesis; D032342:Muscle Cells / Q000648:ultrastructure; D009119:Muscle Contraction; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D032383:Myocytes, Cardiac / Q000648:ultrastructure; D009210:Myofibrils / Q000737:chemistry / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D011487:Protein Conformation; D017434:Protein Structure, Tertiary; D013329:Structure-Activity Relationship; D013718:Tensile Strength
chemical_list: D003893:Desmin