Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.

Szczegóły
Abstrakt

Tytuł:: Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.
Autorzy:: Hussain M; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Krishnamurthy S; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Patel J; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Kim E; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Baptiste BA; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Croteau DL; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Bohr VA; Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA. Electronic address: .
Źródło:: The Journal of investigative dermatology [J Invest Dermatol] 2021 Apr; Vol. 141 (4S), pp. 968-975. Date of Electronic Publication: 2021 Jan 19.
Typ publikacji:: Journal Article; Review
Język:: English
Imprint Name(s):: Publication: 2016- : New York : Elsevier
Original Publication: Baltimore, Williams & Wilkins.
MeSH Terms:: DNA Repair*
Aging, Premature/*complications
Mitochondria/*pathology
Skin/*pathology
Skin Diseases/*genetics
Aging, Premature/genetics ; Aging, Premature/pathology ; Animals ; Apoptosis/genetics ; Cockayne Syndrome/complications ; Cockayne Syndrome/genetics ; Cockayne Syndrome/pathology ; Disease Models, Animal ; Energy Metabolism/genetics ; Humans ; Multiple Endocrine Neoplasia Type 1/complications ; Multiple Endocrine Neoplasia Type 1/genetics ; Multiple Endocrine Neoplasia Type 1/pathology ; Rothmund-Thomson Syndrome/complications ; Rothmund-Thomson Syndrome/genetics ; Rothmund-Thomson Syndrome/pathology ; Skin/cytology ; Skin Diseases/pathology
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Grant Information:: Z01 AG000733 United States ImNIH Intramural NIH HHS
Entry Date(s):: Date Created: 20201223 Date Completed: 20211027 Latest Revision: 20220402
Update Code:: 20240105
PubMed Central ID:: PMC7987691
DOI:: 10.1016/j.jid.2020.10.019
PMID:: 33353663
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Defects in DNA repair pathways and alterations of mitochondrial energy metabolism have been reported in multiple skin disorders. More than 10% of patients with primary mitochondrial dysfunction exhibit dermatological features including rashes and hair and pigmentation abnormalities. Accumulation of oxidative DNA damage and dysfunctional mitochondria affect cellular homeostasis leading to increased apoptosis. Emerging evidence demonstrates that genetic disorders of premature aging that alter DNA repair pathways and cause mitochondrial dysfunction, such as Rothmund-Thomson syndrome, Werner syndrome, and Cockayne syndrome, also exhibit skin disease. This article summarizes recent advances in the research pertaining to these syndromes and molecular mechanisms underlying their skin pathologies.
(Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

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