Huntington's disease: implications of associated cellular radiosensitivity.
Ionizing radiation sensitivity was studied in a series of Huntington's Disease (HD) patients and controls by measurement of radiation-induced chromosome aberrations in lymphocytes and by clonogenic survival of lymphoblastoid cell lines. As a group, HD patients were found to be significantly more radiosensitive than controls (p less than 0.001), but there was an overlap between values for the two groups such that an absolute distinction is not possible. These data are consistent with an association between HD and radiosensitivity but not with identity between HD and a radiosensitive phenotype, so that cellular radiosensitivity cannot be used for individual diagnosis. Analysis of three families including 5 HD patients and 11 first-degree relative confirmed this conclusion and demonstrated that even within a given family presymptomatic diagnosis cannot be based on measurement of radiosensitivity. However, the common association of cellular radiosensitivity with HD probands and their families provides a potential lead to the identification of HD gene(s) and so to an eventual understanding of the aetiopathogenesis of this disease at the molecular level.
D002460:Cell Line; D002470:Cell Survival / Q000528:radiation effects; D002869:Chromosome Aberrations; D005260:Female; D005799:Genes, Dominant / Q000528:radiation effects*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008214:Lymphocytes / Q000528:radiation effects; D008297:Male; D010375:Pedigree