MICE LACKING ORNITHINE-DELTA-AMINO-TRANSFERASE HAVE PARADOXICAL NEONATAL HYPOORNITHINAEMIA AND RETINAL DEGENERATION

被引：77

作者：

WANG, T

LAWLER, AM

STEEL, G

SIPILA, I

MILAM, AH

VALLE, D

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, HOWARD HUGHES MED INST, BALTIMORE, MD 21205 USA

[2] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA

[3] JOHNS HOPKINS UNIV, SCH MED, DEPT OBSTET & GYNECOL, BALTIMORE, MD 21205 USA

[4] AURORA HOSP, DEPT PEDIAT, SF-00250 HELSINKI, FINLAND

[5] UNIV WASHINGTON, SCH MED, DEPT OPHTHALMOL, SEATTLE, WA 98195 USA

来源：

NATURE GENETICS | 1995年 / 11卷 / 02期

关键词：

D O I：

10.1038/ng1095-185

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：185 / 190

页数：6

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