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

https://doi.org/10.1016/j.jid.2020.10.019Get rights and content
Under an Elsevier user license
open archive

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.

Abbreviations

ADP
adenosine diphosphate
ADPRT
adenosine diphosphate-ribosyl transferase
alt-NHEJ
alternative-nonhomologous end joining
BER
base excision repair
c-NHEJ
canonical-nonhomologous end joining
CS
Cockayne syndrome
DSB
double-strand break
DSBR
double-strand break repair
HR
homologous recombination
KO
knockout
NAD
nicotinamide adenine dinucleotide
NADH
nicotinamide adenine dinucleotide-hydrogen
NER
nucleotide excision repair
NHEJ
nonhomologous end joining
RTS
Rothmund-Thomson syndrome
TC-NER
transcription-coupled nucleotide excision repair
WS
Werner syndrome
XP
xeroderma pigmentosum

Cited by (0)