Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.
cardiomyopathy
case report
mitochondrial dysfunction
neurodegeneration
psychomotor developmental arrest
ßIV-spectrin deficiency
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
18
12
2020
accepted:
25
03
2021
entrez:
14
5
2021
pubmed:
15
5
2021
medline:
15
5
2021
Statut:
epublish
Résumé
ßIV-spectrin is a protein of the spectrin family which is involved in the organization of the cytoskeleton structure and is found in high quantity in the axon initial segment and the nodes of Ranvier. Together with ankyrin G, ßIV-spectrin is responsible for the clustering of KCNQ2/3-potassium channels and NaV-sodium channels. Loss or reduction of ßIV-spectrin causes a destabilization of the cytoskeleton and an impairment in the generation of the action potential, which leads to neuronal degeneration. Furthermore, ßIV-spectrin has been described to play an important role in the maintenance of the neuronal polarity and of the diffusion barrier. ßIV-spectrin is also located in the heart where it takes an important part in the structural organization of ion channels and has also been described to participate in cell signaling pathways through binding of transcription factors. We describe two patients with a severe form of ßIV-spectrin deficiency. Whole-exome sequencing revealed the homozygous stop mutation c.6016C>T (p.R2006
Identifiants
pubmed: 33986717
doi: 10.3389/fneur.2021.643805
pmc: PMC8110827
doi:
Types de publication
Case Reports
Langues
eng
Pagination
643805Informations de copyright
Copyright © 2021 Belkheir, Reunert, Elpers, van den Heuvel, Rodenburg, Seelhöfer, Rust, Jeibmann, Frosch and Marquardt.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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