Analysis of the expression of murine glutaryl-CoA dehydrogenase: In vitro and in vivo studies

Michael Woontner, Linda S. Crnic, David M. Koeller

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Glutaric acidemia type I (GAI) is an autosomal recessive organic acidemia caused by a mutation in the gene encoding glutaryl-CoA dehydrogenase (GCD). Clinically, GAI is characterized by progressive dystonia, resulting from degeneration of neurons in the caudate and putamen nuclei of the striatum. In an attempt to understand the basis for the specific neuropathology in GAI, we have analyzed the expression of the murine GCD gene using both in vitro and in vivo approaches. Transfection studies mapped the mouse GCD promoter to a 500-bp region of DNA 5' of the translation start site. The promoter lacks a TATA consensus sequence, but includes possible binding sites for several transcription factors with roles in the regulation of nuclear genes encoding mitochondrial proteins. Western blot and RT/PCR analyses of mouse tissues demonstrated that GCD is ubiquitously expressed, with the highest levels of expression in liver and kidney, consistent with its role in amino acid oxidation. Expression in multiple regions of the brain was also detected by Western blotting. Based on these results we conclude that the specific neuropathology associated with GCD deficiency in GAI cannot be accounted for by its expression pattern. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)116-122
Number of pages7
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Feb 2000
Externally publishedYes


  • Glutaric acidemia type I
  • Glutaryl-CoA dehydrogenase
  • Organic acidemia
  • Striatum

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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