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Cytogenet Genome Res ; 161(6-7): 297-304, 2021.
Article En | MEDLINE | ID: mdl-34433164

Werner syndrome (WS) is an accelerated ageing disease caused by multiple mutations in the gene encoding the Werner DNA helicase (WRN). The major clinical features of WS include wrinkles, grey hair, osteoporosis, and metabolic phenomena such as atherosclerosis, diabetes, and fatty liver, and resemble those seen in normal ageing, but occur earlier, in middle age. Defective DNA repair resulting from mutations in WRN explain the majority of the clinical features of WS, but the underlying mechanisms driving the larger metabolic dysfunction remain elusive. Recent studies in animal models of WS and in WS patient cells and blood samples suggest the involvement of impaired mitophagy, NAD+ depletion, and accumulation of damaged mitochondria in metabolic dysfunction. This mini-review summarizes recent progress in the understanding of the molecular mechanisms of metabolic dysfunction in WS, with the involvement of DNA damage, mitochondrial dysfunction, mitophagy reduction, stem cell impairment, and senescence. Future studies on NAD+ and mitophagy may shed light on potential therapeutic strategies for the WS patients.


Aging/genetics , DNA Damage , Mitochondria/genetics , Mitophagy/genetics , Stem Cells/metabolism , Werner Syndrome/genetics , Animals , Cellular Senescence/genetics , Humans , Mitochondria/metabolism , Telomere/genetics , Telomere/metabolism , Werner Syndrome/metabolism , Werner Syndrome/pathology
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