Apolipoprotein genetic variants and hereditary amyloidosis.
Journal
Current opinion in lipidology
ISSN: 1473-6535
Titre abrégé: Curr Opin Lipidol
Pays: England
ID NLM: 9010000
Informations de publication
Date de publication:
01 04 2021
01 04 2021
Historique:
pubmed:
5
1
2021
medline:
23
3
2022
entrez:
4
1
2021
Statut:
ppublish
Résumé
Amyloidosis is caused by the deposition of misfolded aggregated proteins called amyloid fibrils that in turn cause organ damage and dysfunction. In this review, we aim to summarize the genetic, clinical, and histological findings in apolipoprotein-associated hereditary amyloidosis and the growing list of mutations and apolipoproteins associated with this disorder. We also endeavor to summarize the features of apolipoproteins that have led them to be overrepresented among amyloidogenic proteins. Additionally, we aim to distinguish mutations leading to amyloidosis from those that lead to inherited dyslipidemias. Apolipoproteins are becoming increasingly recognized in hereditary forms of amyloidosis. Although mutations in APOA1 and APOA2 have been well established in hereditary amyloidosis, new mutations are still being detected, providing further insight into the pathogenesis of apolipoprotein-related amyloidosis. Furthermore, amyloidogenic mutations in APOC2 and APOC3 have more recently been described. Although no hereditary mutations in APOE or APOA4 have been described to date, both protein products are amyloidogenic and frequently found within amyloid deposits. Understanding the underlying apolipoprotein mutations that contribute to hereditary amyloidosis may help improve understanding of this rare but serious disorder and could open the door for targeted therapies and the potential development of new treatment options.
Identifiants
pubmed: 33395107
doi: 10.1097/MOL.0000000000000736
pii: 00041433-202104000-00011
doi:
Substances chimiques
Apolipoproteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
132-140Subventions
Organisme : CIHR
Pays : Canada
Informations de copyright
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
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