[The dynamin-2-gene related centronuclear myopathy].
La myopathie centronucléaire liée au gène de la dynamine 2.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
medline:
27
11
2023
pubmed:
17
11
2023
entrez:
17
11
2023
Statut:
ppublish
Résumé
Autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy characterized by muscle weakness and centrally located nuclei in muscle fibers in the absence of any regeneration. AD-CNM is due to mutations in the DNM2 gene encoding dynamin 2 (DNM2), a large GTPase involved in intracellular membrane trafficking and a regulator of actin and microtubule cytoskeletons. DNM2 mutations are associated with a broad clinical spectrum ranging from severe neonatal to less severe late-onset forms. The histopathological signature includes nuclear centralization, predominance and atrophy of type 1 myofibers and radiating sarcoplasmic strands. To explain the muscle dysfunction, several pathophysiological mechanisms affecting key mechanisms of muscle homeostasis have been identified. They include defects in excitation-contraction coupling, muscle regeneration, mitochondria or autophagy. Several therapeutic approaches are under development by modulating the expression of DNM2 in a pan-allelic manner or by allele-specific silencing targeting only the mutated allele, which open the era of clinical trials for this pathology. La myopathie centronucléaire liée au gène de la dynamine 2. La myopathie centronucléaire autosomique dominante (AD-CNM) est une myopathie congénitale rare caractérisée par une faiblesse musculaire et par la présence de noyaux centraux dans les fibres musculaires en absence de tout processus de régénération. L’AD-CNM est due à des mutations du gène DNM2 codant la dynamine 2 (DNM2), une volumineuse GTPase impliquée dans le trafic membranaire intracellulaire et un régulateur des cytosquelettes d’actine et de microtubules. Les mutations de la DNM2 sont associées à un large éventail clinique allant de formes sévères néonatales à des formes moins graves à début plus tardif. La signature histopathologique inclut une centralisation nucléaire, une prédominance et une atrophie des fibres lentes, ainsi que des travées sarcoplasmiques en rayons de roue. Pour expliquer la dysfonction musculaire, plusieurs mécanismes physiopathologiques affectant des étapes clés de l’homéostasie musculaire ont été identifiés. Ils incluent des défauts du couplage excitation-contraction, de la régénération musculaire, des mitochondries ou de l’autophagie. Plusieurs approches thérapeutiques sont en développement, en particulier la modulation de l’expression de la DNM2 pan-allélique ou ne ciblant que l’allèle muté, ouvrant ainsi la porte à des essais cliniques dans cette pathologie.
Autres résumés
Type: Publisher
(fre)
La myopathie centronucléaire liée au gène de la dynamine 2.
Identifiants
pubmed: 37975763
doi: 10.1051/medsci/2023130
pii: medsci230130s
doi:
Substances chimiques
Dynamin II
EC 3.6.5.5
DNM2 protein, human
EC 3.6.5.5
Types de publication
English Abstract
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
6-10Informations de copyright
© 2023 médecine/sciences – Inserm.
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