RGD Reference Report - Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. - Rat Genome Database

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

Authors: Surendran, S  Ezell, EL  Quast, MJ  Wei, J  Tyring, SK  Michals-Matalon, K  Matalon, R 
Citation: Surendran S, etal., Neurosci Lett. 2004 Mar 18;358(1):29-32.
RGD ID: 6484588
Pubmed: (View Article at PubMed) PMID:15016427
DOI: Full-text: DOI:10.1016/j.neulet.2003.12.105

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 gamma-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 alpha-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.

Annotation

Disease Annotations    
Canavan disease  (IEP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Glud1  (glutamate dehydrogenase 1)

Genes (Mus musculus)
Glud1  (glutamate dehydrogenase 1)

Genes (Homo sapiens)
GLUD1  (glutamate dehydrogenase 1)


Additional Information