Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine
| Autor: | Renukanandan Tumu, Alex V. Nesta, Kenneth M. Palanza, Michael Davis, Cherie M. Walton, Thomas R. King |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty animal models of human disease Endocrinology Diabetes and Metabolism Ornithine aminotransferase Auxotrophy Urine Biology 03 medical and health sciences 0302 clinical medicine Gyrate atrophy Internal medicine otorhinolaryngologic diseases medicine Gene Genetics (clinical) Hyperornithinemia lcsh:R5-920 Retina food and beverages argE mutant E coli ornithine biosensor gyrate atrophy of the choroid and retina eye diseases 030104 developmental biology medicine.anatomical_structure Endocrinology Pediatrics Perinatology and Child Health metabolic screening sense organs Choroid lcsh:Medicine (General) 030217 neurology & neurosurgery |
| Zdroj: | Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016) Journal of Inborn Errors of Metabolism and Screening v.4 2016 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160015, Published: 30 MAY 2019 |
| ISSN: | 2326-4594 2326-4098 |
| Popis: | Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene (Oat). The high levels of circulating ornithine that lead to ophthalmic symptoms in young adults are also displayed by 2 ornithine aminotransferase (OAT)-deficient mouse models of GACR. Here, we have developed an inexpensive and quantitative bacteria-based test for detecting hyperornithinemia in blood or urine samples from these mutant mice, a test that we suggest could be used to facilitate the identification and treatment of OAT-deficient humans before the onset of visual impairment. |
| Databáze: | OpenAIRE |
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