Genetic toxicity gene mutations

Toxic substances and radiation can damage genetic material in three major ways gene mutations, chromosome aberrations, and changes in the number of chromosomes.1 Each of these has the potential to be quite damaging. They are discussed separately here. 

This test is well-validated and widely accepted by regulatory agencies as part of the standard battery of genetic toxicity assays, in addition to the two in vitro assays (BrambiUa and Martelh 2004 Cimino 2006). Because of the mechanism of micronuclei formation, the micronucleus test does not in principle detect gene mutations. It should therefore be considered complementary to in vitro gene mutation assays, and not as a follow-up assay to confirm in vitro gene mutations. 

Autosomal dominant optic atrophy is an inherited optic neuropathy with variable penetrance and expressivity. Other genetic and environmental factors are postulated to contribute to more marked visual loss in some affected individuals. In an atypical case of ethambutol toxicity, with progressive profound loss of vision despite drug withdrawal, a diagnosis of autosomal dominant optic atrophy was made when the proband s sons presented with mild visual disturbances and color vision defects, confirmed by electrophysiology and OPAl gene mutational analysis [13 ]. 

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