Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients.

Abstract

Rothmund Thomson syndrome (RTS) is an oculocutaneous and cancer-prone disorder in which enhanced carcinogen sensitivity, mediated through abnormal DNa metabolism, may be an associated factor. Cultured fibroblasts from 5 RTS patients have been examined for their colony-forming abilities and DNa repair capacities following gamma-irradiation. 2 of the 4 RTS strains showed enhanced sensitivity following hypoxic gamma-irradiation, and 1 of these 2 strains also showed enhanced sensitivity under toxic conditions. Defective DNA repair was implicated in the above abnormal responses to gamma-radiation since both strains displayed reduced levels of repair synthesis and slow removal of radiogenic DNA lesions (assayed by their sensitivity to strand-incising activities present in protein extracts of Micrococcus luteus cells). A hypothesis is presented to rationalize the origin and heterogeneity of these laboratory phenotypes of RTS.

• Authors: P J Smith, M C Paterson
• Journal: Mutation research (Mutat Res) Vol. 94 Issue 1 Pg. 213-28 (May 1982) ISSN: 0027-5107 [Print] Netherlands
• PMID: 7099192 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Oxygen

Topics

• Adolescent
• Adult
• Cataract (genetics)
• Cell Survival (radiation effects)
• Cells, Cultured
• Child
• Child, Preschool
• DNA Repair (radiation effects)
• Dwarfism (genetics)
• Female
• Fibroblasts (radiation effects)
• Gamma Rays
• Humans
• Male
• Middle Aged
• Oxygen (metabolism)
• Radiation Tolerance
• Skin Diseases (genetics)
• Syndrome