Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
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.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001260:Ataxia Telangiectasia / Q000235:genetics; D002460:Cell Line; D002470:Cell Survival / Q000528:radiation effects; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair / Q000187:drug effects / Q000528:radiation effects*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000528:radiation effects; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000528:radiation effects; D008297:Male; D008769:Methylnitronitrosoguanidine / Q000633:toxicity*; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D009410:Nerve Degeneration / Q000187:drug effects / Q000528:radiation effects*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D008769:Methylnitronitrosoguanidine