Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease

Sankar Surendran, Stephen K. Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Research output: Contribution to journalArticle

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)13-20
Number of pages8
JournalCurrent Pharmacogenomics
Issue number1
StatePublished - Mar 2004



  • AST
  • Canavan disease
  • EAAT4
  • GABA
  • GABRA6
  • Glutamate

ASJC Scopus subject areas

  • Pharmacology
  • Genetics

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