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Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency

Charlotta Filling1, Brigitte Keller, Daniel Hirschberg

  • 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden.

Biochemical and Biophysical Research Communications
|November 27, 2007
PubMed

Insights

Short-chain hydroxyacyl CoA dehydrogenase deficiency, a severe pediatric disorder, is primarily linked to HADH 1 enzyme activity. Protein interactions, not HADH mutations, likely cause the disease, potentially involving glutamate dehydrogenase.

Area of Science:

  • Biochemistry
  • Metabolic disorders
  • Pediatric medicine

Background:

  • Short-chain hydroxyacyl CoA dehydrogenase deficiency (SCHAD) is a poorly understood pediatric disorder affecting mitochondrial fatty acid beta-oxidation.
  • Two key enzymes, HADH 1 and HADH 2, are involved in metabolizing short-chain hydroxyacyl-CoAs.

Purpose of the Study:

  • To investigate the roles of HADH 1 and HADH 2 in SCHAD.
  • To identify the underlying molecular mechanisms of the disorder.

Main Methods:

  • Analysis of tissue biopsies from affected families.
  • Comparison of kinetic parameters for HADH 1 and HADH 2.
  • Protein interaction studies using recombinant enzymes and mitochondrial extracts.

Main Results:

  • Kinetic analysis indicates HADH 1 is the primary enzyme in short-chain hydroxyacyl-CoA beta-oxidation.
  • No mutations were found in the HADH 2 gene of patients.
  • Two proteins, including glutamate dehydrogenase, were found to interact with HADH 1.

Conclusions:

  • Protein interactions, rather than HADH mutations, are implicated in the disease phenotype.
  • The interaction between HADH 1 and glutamate dehydrogenase suggests a link between fatty acid metabolism and hyperinsulinism/hyperammonia syndrome.

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