Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.


Journal

The Journal of investigative dermatology
ISSN: 1523-1747
Titre abrégé: J Invest Dermatol
Pays: United States
ID NLM: 0426720

Informations de publication

Date de publication:
08 2022
Historique:
received: 21 10 2021
revised: 25 01 2022
accepted: 28 01 2022
pubmed: 11 2 2022
medline: 27 7 2022
entrez: 10 2 2022
Statut: ppublish

Résumé

Pseudoxanthoma elasticum (PXE) is a heritable ectopic calcification disorder with multiorgan clinical manifestations. The gene at default, ABCC6, encodes an efflux transporter, ABCC6, which is a critical player regulating the homeostasis of inorganic pyrophosphate, a potent endogenous anticalcification factor. Previous studies suggested that systemic inorganic pyrophosphate deficiency is the major but not the exclusive cause of ectopic calcification in PXE. In this study, we show that the DNA damage response (DDR) and poly(ADP-ribose) (PAR) pathways are involved locally in PXE at sites of ectopic calcification. Genetic inhibition of PAR polymerase 1 gene PARP1, the predominant PAR-producing enzyme, showed a 54% reduction of calcification in the muzzle skin in Abcc6

Identifiants

pubmed: 35143822
pii: S0022-202X(22)00092-6
doi: 10.1016/j.jid.2022.01.022
pmc: PMC9329183
mid: NIHMS1779336
pii:
doi:

Substances chimiques

Abcc6 protein, mouse 0
Diphosphates 0
Multidrug Resistance-Associated Proteins 0
Parp1 protein, mouse EC 2.4.2.30
Poly (ADP-Ribose) Polymerase-1 EC 2.4.2.30
Minocycline FYY3R43WGO

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2140-2148.e1

Subventions

Organisme : NIAMS NIH HHS
ID : R01 AR072695
Pays : United States
Organisme : NIAMS NIH HHS
ID : R21 AR077332
Pays : United States

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

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Auteurs

Jianhe Huang (J)

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; PXE International Center of Excellence in Research and Clinical Care, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Douglas Ralph (D)

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; PXE International Center of Excellence in Research and Clinical Care, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Genetics, Genomics & Cancer Biology PhD Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Federica Boraldi (F)

Department of Life Science, University of Modena and Reggio Emilia, Modena, Italy.

Daniela Quaglino (D)

Department of Life Science, University of Modena and Reggio Emilia, Modena, Italy.

Jouni Uitto (J)

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; PXE International Center of Excellence in Research and Clinical Care, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Qiaoli Li (Q)

Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; PXE International Center of Excellence in Research and Clinical Care, Department of Dermatology & Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Qiaoli.Li@Jefferson.edu.

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Classifications MeSH