Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity.


Journal

Biochimica et biophysica acta. Molecular basis of disease
ISSN: 1879-260X
Titre abrégé: Biochim Biophys Acta Mol Basis Dis
Pays: Netherlands
ID NLM: 101731730

Informations de publication

Date de publication:
01 09 2020
Historique:
received: 17 09 2019
revised: 10 12 2019
accepted: 11 12 2019
pubmed: 22 12 2019
medline: 22 12 2020
entrez: 22 12 2019
Statut: ppublish

Résumé

The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain. One of these co-morbidities is a decline in cardiac function. This is becoming increasingly recognised in teenagers and adolescents with juvenile CLN3, but it may also occur in individuals with other NCLs. The purpose of this review is to summarise the current knowledge of the structural and functional changes found in the hearts of animal models and people diagnosed with NCL. In addition, we present evidence of structural changes that were observed in a systematic comparison of the cardiomyocytes from CLN3

Identifiants

pubmed: 31863828
pii: S0925-4439(19)30373-4
doi: 10.1016/j.bbadis.2019.165643
pii:
doi:

Substances chimiques

CLN3 protein, mouse 0
Membrane Glycoproteins 0
Molecular Chaperones 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

165643

Informations de copyright

Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare no conflict of interest for this study.

Auteurs

Katja Rietdorf (K)

School of Life, Health and Chemical Sciences, The Open University, Walton Hall, Milton Keynes MK7 6AA, UK. Electronic address: katja.rietdorf@open.ac.uk.

Emily E Coode (EE)

School of Life, Health and Chemical Sciences, The Open University, Walton Hall, Milton Keynes MK7 6AA, UK.

Angela Schulz (A)

Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Eva Wibbeler (E)

Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Martin D Bootman (MD)

School of Life, Health and Chemical Sciences, The Open University, Walton Hall, Milton Keynes MK7 6AA, UK.

John R Ostergaard (JR)

Centre for Rare Diseases Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200 Aarhus N, Denmark.

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Classifications MeSH