Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
CASQ2 mutations
Cathecolaminergic polymorphic ventricular tachycardia
Degradative pathways
Small heat shock proteins
Journal
Journal of muscle research and cell motility
ISSN: 1573-2657
Titre abrégé: J Muscle Res Cell Motil
Pays: Netherlands
ID NLM: 8006298
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
22
04
2020
accepted:
29
08
2020
pubmed:
10
9
2020
medline:
11
8
2021
entrez:
9
9
2020
Statut:
ppublish
Résumé
Homozygous calsequestrin 2 (CASQ2) point mutations leads to catecholaminergic polymorphic ventricular tachycardia: a common pathogenetic feature appears to be the drastic reduction of mutant CASQ2 in spite of normal transcription. Comparative biochemical analysis of R33Q and D307H knock in mutant mice identifies different pathogenetic mechanisms for CASQ2 degradation and different molecular adaptive mechanisms. In particular, each CASQ2 point mutation evokes specific adaptive cellular and molecular processes in each of the four adaptive pathways investigated. Thus, similar clinical phenotypes and identical cellular mechanism for cardiac arrhythmia might imply different molecular adaptive mechanisms.
Identifiants
pubmed: 32902830
doi: 10.1007/s10974-020-09587-2
pii: 10.1007/s10974-020-09587-2
pmc: PMC7666291
doi:
Substances chimiques
CASQ2 protein, human
0
Calsequestrin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
251-258Références
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