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Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease

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Canavan disease (CD) is an autosomal recessive disorder, caused by mutations in the aspartoacylase gene resulting enzyme deficiency. Patients with CD have accumulation of NAAG and NAA in the brain resulting elevated urinary NAAG and NAA. Aspartoacylase gene mutation in the mouse led to multiple genomic abnormalities. Pathophysiological processes implicated in CD include spongy degeneration of the brain possibly by the abnormal genes expression / metabolic levels of NAAG, NAA, aspartate, glutamate, glutamate transporter-EAAT4, GABA receptor-GABRA6 and GABA. In addition, high expression of cell death inducing agents includes serine proteinase inhibitor 2, caspase 11 and interleukin 1- beta. Osteoporosis is also an important consequence in the CD mouse. Each of these pathways offers potential therapeutic targets and pharmacological manipulation.
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Keywords: ast; canavan disease; eaat4; gaba; gabra6; glutamate

Document Type: Review Article

Affiliations: Departments of Pediatrics and Microbiology and Immunology, University of Texas Medical Branch, alveston, TX, USA

Publication date: March 1, 2004

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  • Current Pharmacogenomics provides comprehensive overviews of all current research on pharmacogenomics and pharmacogenetics. All areas of the field from pre-clinical to clinical research are covered, including related areas such as genomics, proteomics, target discovery, bioinformatics and novel diagnostics. This international journal is peer-reviewed and publishes both mini- and full review articles.

    The journal has become essential reading for all researchers and clinicians with interests in pharmacogenomics and pharmacogenetics.
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