PT  - JOURNAL ARTICLE
AU  - J H Robbins
AU  - D A Scudiero
AU  - F Otsuka
AU  - R E Tarone
AU  - R A Brumback
AU  - J D Wirtschafter
AU  - R J Polinsky
AU  - S F Barrett
AU  - A N Moshell
AU  - R G Scarpinato
TI  - Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.
AID  - 10.1136/jnnp.47.4.391
DP  - 1984 Apr 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 391--398
VI  - 47
IP  - 4
4099  - http://jnnp.bmj.com/content/47/4/391.short
4100  - http://jnnp.bmj.com/content/47/4/391.full
SO  - J Neurol Neurosurg Psychiatry1984 Apr 01; 47
AB  - 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.