A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.
acylcarnitine
cardiac muscle
heart disease
lipid
metabolism
muscular dystrophy
phosphatidylcholine
Journal
The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
23
09
2021
revised:
31
01
2022
accepted:
01
02
2022
pubmed:
14
2
2022
medline:
16
4
2022
entrez:
13
2
2022
Statut:
ppublish
Résumé
The CHKB gene encodes choline kinase β, which catalyzes the first step in the biosynthetic pathway for the major phospholipid phosphatidylcholine. Homozygous loss-of-function variants in human CHKB are associated with a congenital muscular dystrophy. Dilated cardiomyopathy is present in some CHKB patients and can cause heart failure and death. Mechanisms underlying a cardiac phenotype due to decreased CHKB levels are not well characterized. We determined that there is cardiac hypertrophy in Chkb
Identifiants
pubmed: 35151687
pii: S0021-9258(22)00156-9
doi: 10.1016/j.jbc.2022.101716
pmc: PMC8913350
pii:
doi:
Substances chimiques
Phosphatidylcholines
0
Atrial Natriuretic Factor
85637-73-6
Choline Kinase
EC 2.7.1.32
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
101716Subventions
Organisme : CIHR
ID : SOP-159230
Pays : Canada
Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article.