Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation.
calcium signaling
ceramides
differentiation
epidermis
gene set enrichment analysis
keratinocytes
lipid lamellae imbalance
organotypics
pyridoxal 5′-phosphate-dependent aldehyde lyase
sphingolipid accumulation
Journal
Journal of lipid research
ISSN: 1539-7262
Titre abrégé: J Lipid Res
Pays: United States
ID NLM: 0376606
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
received:
13
10
2022
revised:
15
02
2023
accepted:
18
02
2023
medline:
25
4
2023
pubmed:
4
3
2023
entrez:
3
3
2023
Statut:
ppublish
Résumé
Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% had abnormalities such as ichthyosis, acanthosis, and hyperpigmentation. To elucidate the disease mechanism and the role SGPL1 plays in the skin barrier we established clustered regularly interspaced short palindromic repeats-Cas9 SGPL1 KO and a lentiviral-induced SGPL1 overexpression (OE) in telomerase reverse-transcriptase immortalised human keratinocytes (N/TERT-1) and thereafter organotypic skin equivalents. Loss of SGPL1 caused an accumulation of S1P, sphingosine, and ceramides, while its overexpression caused a reduction of these species. RNAseq analysis showed perturbations in sphingolipid pathway genes, particularly in SGPL1_KO, and our gene set enrichment analysis revealed polar opposite differential gene expression between SGPL1_KO and _OE in keratinocyte differentiation and Ca
Identifiants
pubmed: 36868360
pii: S0022-2275(23)00024-X
doi: 10.1016/j.jlr.2023.100351
pmc: PMC10123262
pii:
doi:
Substances chimiques
sphingosine 1-phosphate
26993-30-6
Sphingolipids
0
Calcium
SY7Q814VUP
Aldehyde-Lyases
EC 4.1.2.-
Lysophospholipids
0
Sphingosine
NGZ37HRE42
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
100351Subventions
Organisme : Cancer Research UK
ID : C16420/A18066
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/21/10762
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T02402X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K020455/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0801265
Pays : United Kingdom
Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
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