Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency

S. Surendran, E. L. Ezell, M. J. Quast, J. Wei, S. K. Tyring, K. Michals-Matalon, Reuben Matalon

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase deficiency leading to accumulation of N-acetylaspartic acid and spongy degeneration of the brain. The mouse model for CD showed low levels of glutamate and γ-aminobutyric acid (GABA) in the brain. Whether the low levels of glutamate and GABA observed in the CD mouse brain lead to abnormal production of glutamate-GABA associated enzymes and resulting succinate production is not obvious. While glutamate dehydrogenase and α-ketoglutarate dehydrogenase complex activities are lower in the cerebellum and brain stem of the CD mouse, alanine aminotransferase and succinate semialdehyde dehydrogenase (SSADH) activities and succinate level are similar to the levels observed in the wild type. Deficiency of SSADH has been suggested to be associated with mental retardation and hypotonia, similar to the clinical features of CD. The normal SSADH activity in the CD mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity and if documented also in patients with CD.

Original languageEnglish (US)
Pages (from-to)29-32
Number of pages4
JournalNeuroscience Letters
Volume358
Issue number1
DOIs
StatePublished - Mar 18 2004

Fingerprint

Succinate-Semialdehyde Dehydrogenase
Canavan Disease
Muscle Hypotonia
Knockout Mice
Intellectual Disability
Glutamic Acid
Aminobutyrates
Succinic Acid
Brain
Ketoglutarate Dehydrogenase Complex
Glutamate Dehydrogenase
Alanine Transaminase
Cerebellum
Brain Stem

Keywords

  • α-Ketoglutarate dehydrogenase complex
  • Alanine aminotransferase
  • Canavan disease
  • Glutamate dehydrogenase
  • Succinate
  • Succinate semialdehyde dehydrogenase

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. / Surendran, S.; Ezell, E. L.; Quast, M. J.; Wei, J.; Tyring, S. K.; Michals-Matalon, K.; Matalon, Reuben.

In: Neuroscience Letters, Vol. 358, No. 1, 18.03.2004, p. 29-32.

Research output: Contribution to journalArticle

Surendran, S. ; Ezell, E. L. ; Quast, M. J. ; Wei, J. ; Tyring, S. K. ; Michals-Matalon, K. ; Matalon, Reuben. / Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. In: Neuroscience Letters. 2004 ; Vol. 358, No. 1. pp. 29-32.
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