Abstract |
Dyskeratosis congenita is a rare X-linked recessive disease, characterized by mucosal leukokeratosis, nail dystrophy, telangiectasia, reticulated hyperpigmentation, pancytopenia, and a heightened susceptibility to infection and malignancy. We exposed cultured fibroblasts and peripheral leukocytes from normal persons and from 2 unrelated young adult men with dyskeratosis congenita to 4,5',8-trimethylpsoralen and ultraviolet light. We than compared certain of their responses. Labeled DNA from fibroblasts exposed to 4,5',8-trimethylpsoralen and ultraviolet light showed fast-sedimenting DNA, a pattern we interpreted as evidence that cross-linking, psoralen- DNA photoadducts had been formed by the treatment. Fast-sedimenting DNA persisted for 24 hr in dyskeratosis congenita cells but disappeared from normal cells during a 24-hr repair period. Cultured peripheral blood leukocytes from persons with this syndrome similarly exposed to 4,5',8-trimethylpsoralen and ultraviolet light developed more sister chromatid exchanges than did cells from normal persons. These data suggest that a heightened susceptibility in DNA cross-links may be of fundamental importance in the etiology of dyskeratosis congenita.
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Authors | D M Carter, M Pan, A Gaynor, J S McGuire, L Sibrack |
Journal | The Journal of investigative dermatology
(J Invest Dermatol)
Vol. 73
Issue 1
Pg. 97-101
(Jul 1979)
ISSN: 0022-202X [Print] United States |
PMID | 448184
(Publication Type: Comparative Study, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
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Topics |
- Adolescent
- Adult
- Cells, Cultured
- Chromatids
(drug effects, radiation effects)
- DNA
- Dose-Response Relationship, Drug
- Dose-Response Relationship, Radiation
- Female
- Fibroblasts
(drug effects, radiation effects)
- Humans
- Leukocytes
(drug effects, radiation effects)
- Male
- Photochemotherapy
- Skin Diseases
(blood, congenital, pathology)
- Trioxsalen
(pharmacology)
- Ultraviolet Rays
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