Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
Open Access
- 1 April 1984
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 47 (4), 391-398
- https://doi.org/10.1136/jnnp.47.4.391
Abstract
Lymphoblastoid lines from nine Usher's syndrome (recessively inherited retinitis pigmentosa and congenital sensorineural deafness) patients (representing eight kindreds) and from ten Duchenne muscular dystrophy patients (representing seven kindreds) showed a small but statistically significant hypersensitivity to the lethal effects of X-rays, as measured by the cellular ability to exclude the vital dye trypan blue, when compared with lines from 26 normal control subjects. Fibroblast lines from the Usher's syndrome patients, treated with X-rays or the radiomimetic, DNA-damaging chemical N-methyl-N'-nitro-N-nitrosoguanidine, also showed a statistically significant hypersensitivity when compared to normal fibroblast lines. These findings are consistent with the possibility that defective DNA repair mechanisms may be involved in the pathogenesis of these degenerative diseases.This publication has 37 references indexed in Scilit:
- Statistical methods for in vitro cell survival assaysMutation Research, 1983
- RADIOSENSITIVITY IN ALZHEIMER DISEASE AND PARKINSON DISEASEThe Lancet, 1983
- Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia.Journal of Neurology, Neurosurgery & Psychiatry, 1982
- A deficiency in the repair of UV and γ-ray damaged DNA in fibroblasts from Cockayne's syndromeMutation Research, 1982
- Abnormal levels of UV-induced unscheduled DNA synthesis in ataxia telangiectasia cells after exposure to ionizing radiationMutation Research, 1982
- PRESYMPTOMATIC DIAGNOSIS OF HUNTINGTON'S DISEASE?The Lancet, 1980
- Radiosensitivity in Cultured Human FibroblastsInternational Journal of Radiation Biology and Related Studies in Physics, Chemistry and Medicine, 1980
- RADIOSENSITIVITY IN HUNTINGTON'S DISEASE: IMPLICATIONS FOR PATHOGENESIS AND PRESYMPTOMATIC DIAGNOSISThe Lancet, 1980
- A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group AMutation Research, 1976
- Host-cell reactivation of ultraviolet-irradiated SV40 DNA in five complementation groups of xeroderma pigmentosumMutation Research, 1976