Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

ABSTRACT: Cockayne Syndrome (CS) is an autosomal recessive disorder arising from mutations in either of two disease-associated genes, ERCC6 or ERCC8. CS patients exhibit cutaneous photosensitivity, neuropathological abnormalities, severe growth retardation, a distinctive facial appearance with pronounced sunken eyes, musculoskeletal anomalies, sensory impairment, and dental decay. Approximately 70% of all CS cases carry ERCC6 mutations; therefore, this review will focus solely on Cockayne Syndrome complementation group B (CS-B). CS-B exhibits several hallmarks of aging, including genomic instability, epigenetic modifications, loss of proteostasis, and mitochondrial failure. CS-B is proposed to result from the accumulation of DNA damage and the resulting transcription impairment. However, the main pa

SUBMITTER: Afonso-Reis R 

PROVIDER: S-EPMC12266758 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature