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Current Pharmacogenomics


ISSN (Print): 1570-1603
ISSN (Online): 1570-1603

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

Author(s): Sankar Surendran, Stephen K. Tyring, Kimberlee Michals-Matalon and Reuben Matalon

Volume 2, Issue 1, 2004

Page: [13 - 20] Pages: 8

DOI: 10.2174/1570160043476141

Price: $65


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.

Keywords: canavan disease, ast, glutamate, eaat4, gabra6, gaba

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