Evidence for an hereditary defect in taurine transport in the ciliary epithelium of an inbred strain of rabbits.
The concentration of taurine in the aqueous humour and serum of 21 rabbits with hereditary buphthalmia (Bu rabbits-genotype bu/bu) was compared with the aqueous and serum taurine levels of eight strain-related normal rabbits (JAX) and nine non-strain-related normal rabbits (MCV). There was a significant difference in the mean aqueous taurine concentration in each of the three groups. The Bu rabbits had only 29% of the MCV rabbits' level while the JAX rabbits were intermediate with 56% of the MCV level. It is suggested that some of the JAX rabbits may be heterozygous and the Bu rabbits homozygous for a semi-dominant allele of a gene that is less efficient in taurine transport in the ciliary epithelium than the normal allele represented by the MCV animals.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000818:Animals; D001082:Aqueous Humor / Q000378:metabolism*; D001692:Biological Transport; D002924:Ciliary Body / Q000378:metabolism; D004195:Disease Models, Animal; D004848:Epithelium / Q000378:metabolism; D005901:Glaucoma / Q000151:congenital* / Q000378:metabolism; D011817:Rabbits; D013654:Taurine / Q000097:blood / Q000378:metabolism*
D013654:Taurine