Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia.

Abstract

Skin fibroblasts from 7 patients with Friedreich''s ataxia showed a small but significant increase in sensitivity to ionizing radiation, as measured by postirradiation clonal growth, when compared with cells from 10 age-matched control subjects and from 8 patients with motor neuron disease. Fibroblasts from 3 patients with Friedrich''s ataxia also showed impairment of their ability to repair potentially lethal damage after ionizing radiation. These findings are consistent with the view that defective DNA reparative mechanisms may be involved in the pathogenesis of Friedreich''s ataxia.