Ornithine-δ-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy
نویسندگان
چکیده
منابع مشابه
Expression defect of ornithine aminotransferase gene in gyrate atrophy.
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT cDNA, previously constructed and characterized in our laboratory, and anti-human OAT antibody were used as probes to examine the OAT gene, mRNA and ...
متن کاملA deletion in the ornithine aminotransferase gene in gyrate atrophy.
Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment and the absence of OAT mRNA on Northern blot analysis. Cloning and sequencing analysis of the trunc...
متن کاملGyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-δ-aminotransferase Gene Analysis: A Case Report
A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral visual field constriction was noted on dynamic Goldmann perimetry, and a markedly impaired response was observed on both photopic and scotopic electroretinograms. Cys...
متن کاملOrnithine metabolism in male and female rat kidney: mitochondrial expression of ornithine aminotransferase and arginase II.
In the kidney, L-ornithine is reabsorbed along the proximal convoluted tubule (PCT), transported by basolateral carriers, and produced by arginase II (AII). Here, the renal metabolic fate of L-ornithine was analyzed in male and female rats. Kidneys and renal zones were dissected and used for Western blot analysis, immunofluorescence, and electron microscopic studies. Ornithine aminotransferase ...
متن کاملGene transfer and expression of human ornithine aminotransferase.
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT), is present in the hereditary blinding disease, gyrate atrophy (GA). Because the OAT gene is a multi-gene family, and the native OAT enzyme is an oligomer, it would be important to identify the gene locus actually responsible for the OAT activity and affected in GA. A mammalian expression clone containing a p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Gene Therapy
سال: 1997
ISSN: 0969-7128,1476-5462
DOI: 10.1038/sj.gt.3300505