缺乏鸟氨酸-δ-氨基转移酶的小鼠出现矛盾的新生儿低鸟氨酸血症和视网膜变性。
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
作者信息
Wang T, Lawler A M, Steel G, Sipila I, Milam A H, Valle D
机构信息
Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2185, USA.
出版信息
Nat Genet. 1995 Oct;11(2):185-90. doi: 10.1038/ng1095-185.
Deficiency of ornithine-delta-aminotransferase (OAT) in humans causes hyperornithinaemia and gyrate atrophy (GA), a blinding chorioretinal degeneration. Surprisingly, OAT-deficient mice produced by gene targeting exhibit neonatal hypoornithinaemia and lethality, rescuable by short-term arginine supplementation. Post-weaning, these mice develop hyperornithinaemia similar to human GA patients. Subsequent studies in one human GA infant also showed transient hypoornithinaemia. Thus, the OAT reaction plays opposite roles in neonatal and adult mammals. Over several months, OAT-deficient mice develop a retinal degeneration with involvement of photoreceptors and pigment epithelium. OAT-deficient mice appear to be an excellent model of human GA.
人类鸟氨酸-δ-氨基转移酶（OAT）缺乏会导致高鸟氨酸血症和回旋状萎缩（GA），这是一种致盲性脉络膜视网膜变性疾病。令人惊讶的是，通过基因靶向产生的OAT缺陷小鼠表现出新生儿低鸟氨酸血症和致死性，短期补充精氨酸可挽救。断奶后，这些小鼠会出现与人类GA患者相似的高鸟氨酸血症。随后对一名人类GA婴儿的研究也显示出短暂的低鸟氨酸血症。因此，OAT反应在新生和成年哺乳动物中发挥着相反的作用。在几个月的时间里，OAT缺陷小鼠会出现涉及光感受器和色素上皮的视网膜变性。OAT缺陷小鼠似乎是人类GA的一个优秀模型。
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