Markers of Aging in Cells of Patients with Cockayne Syndrome. General and Individual Differences

Resumo

Cockayne syndrome is a rare autosomal recessive disease described in the 1930s by E.A. Cockayne. Patients suffer from cachectic dwarfism (when the weight is lowered compared to the norm even more than growth), photosensitivity, deafness, and various visual impairments (optic atrophy, cataracts, degeneration of the corneal epithelium, retinal injuries). The average life expectancy of patients with Cockayne syndrome is 12 years. In the cells of patients, the process of nucleotide excision repair (NER), its branch coupled with transcription (transcription coupled repair: TCR) (TC-NER), is disrupted. When studying the panel of aging markers (SA-β-gal, γ-H2AX, 53BP1, HP1-γ, SIRT1, SIRT6, 3meH3K9, 3meH3K27), as well as structural damage to nuclear lamina and telomere shortening, it was shown that the cells of patients with Cockayne syndrome have pronounced signs of accelerated aging in all studied markers. This allows us to consider Cockayne syndrome to be a true progeria and use cell lines obtained from patients as model objects for studying the processes of aging and testing geroprotectors.