Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.
Fibroblasts from four pyridoxine responsive and three non-responsive patients with gyrate atrophy of the choroid and retina have been examined. Responsive patients had higher activity of ornithine ketoacid transaminase (OKT) in cell homogenates and greater incorporation of radioactivity from 14C-ornithine into protein in cultured cells in situ compared to non-responsive patients. Complementation analysis of the cells from these seven patients was performed, based on the ratio of incorporation of 14C/3H into protein in fused cells incubated in 14C-ornithine and 3H-leucine. Lack of positive complementation in these crosses suggests that pyridoxine responsive and non-responsive patients with gyrate atrophy represent different allelic mutations of the same genetic locus coding for OKT.
D001284:Atrophy; D002829:Choroid / Q000473:pathology*; D002874:Chromosome Mapping; D005347:Fibroblasts; D005816:Genetic Complementation Test; D006801:Humans; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics / Q000378:metabolism*; D011736:Pyridoxine / Q000627:therapeutic use*; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000188:drug therapy / Q000235:genetics*; D000637:Transaminases / Q000378:metabolism*; D014603:Uveal Diseases / Q000188:drug therapy / Q000235:genetics*
D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase; D011736:Pyridoxine