Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
| Autor: | Leonardo Salviati, Barbara Cellini, Riccardo Montioli, Carla Borri Voltattorni, Ilaria Bellezza, Maria Andrea Desbats |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Models
Molecular Ornithine 0301 basic medicine Coenzymes Gene Expression Biochemistry Protein Structure Secondary Analytical Chemistry chemistry.chemical_compound 0302 clinical medicine Gyrate atrophy of the choroid and retina Ornithine aminotransferase Pathogenic variants Pyridoxal phosphate Retinal cells Vitamin B6 Ornithine-Oxo-Acid Transaminase food and beverages Phenotype medicine.anatomical_structure medicine.medical_specialty Biophysics Biology Arginine Retina 03 medical and health sciences Internal medicine otorhinolaryngologic diseases medicine Gyrate Atrophy Humans Molecular Biology Gene Hyperornithinemia Choroid Chromosomes Human Pair 10 Retinal Vitamin B 6 Diet 030104 developmental biology Endocrinology chemistry Mutation 030221 ophthalmology & optometry Protein Multimerization |
| Popis: | Gyrate Atrophy (GA) of the choroid and retina (MIM# 258870) is an autosomal recessive disorder due to mutations of the OAT gene encoding ornithine-delta-aminotransferase (OAT), associated with progressive retinal deterioration and blindness. The disease has a theoretical global incidence of approximately 1:1,500,000. OAT is mainly involved in ornithine catabolism in adults, thus explaining the hyperornithinemia as hallmark of the disease. Patients are treated with an arginine-restricted diet, to limit ornithine load, or the administration of Vitamin B6, a precursor of the OAT coenzyme pyridoxal phosphate. Although the clinical and genetic aspects of GA are known for many years, the enzymatic phenotype of pathogenic variants and their response to Vitamin B6, as well as the molecular mechanisms explaining retinal damage, are poorly clarified. Herein, we provide an overview of the current knowledge on the biochemical properties of human OAT and on the molecular, cellular, and clinical aspects of GA. |
| Databáze: | OpenAIRE |
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