Markers of Aging in Cells of Patients with Cockayne Syndrome. General and Individual Differences
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, dege...
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| Published in | Cell and tissue biology Vol. 12; no. 4; pp. 296 - 306 |
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| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
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Moscow
Pleiades Publishing
01.07.2018
Springer Nature B.V |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Zherebtsov, S. V. Pleskach, N. M. Bulatnikova, M. A. Mikhelson, V. M. Dolinina, T. I. Slizhov, P. A. Spivak, I. M. Vasilishina, A. A. |
| Author_xml | – sequence: 1 givenname: P. A. surname: Slizhov fullname: Slizhov, P. A. email: maidel@bk.ru organization: Herzen State Pedagogical University, Institute of Cytology of the Russian Academy of Sciences – sequence: 2 givenname: T. I. surname: Dolinina fullname: Dolinina, T. I. organization: Institute of Cytology of the Russian Academy of Sciences, Peter the Great St. Petersburg Polytechnic University – sequence: 3 givenname: N. M. surname: Pleskach fullname: Pleskach, N. M. organization: Institute of Cytology of the Russian Academy of Sciences – sequence: 4 givenname: A. A. surname: Vasilishina fullname: Vasilishina, A. A. organization: Institute of Cytology of the Russian Academy of Sciences – sequence: 5 givenname: S. V. surname: Zherebtsov fullname: Zherebtsov, S. V. organization: Institute of Cytology of the Russian Academy of Sciences – sequence: 6 givenname: M. A. surname: Bulatnikova fullname: Bulatnikova, M. A. organization: Pokrovsky Stem Cell Bank – sequence: 7 givenname: V. M. surname: Mikhelson fullname: Mikhelson, V. M. organization: Institute of Cytology of the Russian Academy of Sciences – sequence: 8 givenname: I. M. surname: Spivak fullname: Spivak, I. M. organization: Institute of Cytology of the Russian Academy of Sciences, St. Petersburg State University, Peter the Great St. Petersburg Polytechnic University |
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| Snippet | 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... |
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| SubjectTerms | Aging Atrophy Biomedical and Life Sciences Cataracts Cell Biology Cell lines Chromosomes Cockayne syndrome Cornea Deafness Degeneration Dwarfism Epithelium Life Sciences Life span Nucleotide excision repair Optic atrophy Photosensitivity Progeria Retina SIRT1 protein Transcription |
| Title | Markers of Aging in Cells of Patients with Cockayne Syndrome. General and Individual Differences |
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