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Related Experiment Videos

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Eduard A Struys1, Stanley H Korman, Gajja S Salomons

  • 1Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

Annals of Neurology
|July 23, 2005
PubMed
Summary

Novel mutations in the D-2-hydroxyglutarate dehydrogenase gene cause mild D-2-hydroxyglutaric aciduria. These genetic findings in Palestinian families expand understanding of this neurometabolic disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • D-2-hydroxyglutaric aciduria is a neurometabolic disorder with variable clinical presentations.
  • Previously, pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene were identified as the cause of severe D-2-hydroxyglutaric aciduria.
  • The genetic basis for milder forms of the disorder remained largely uncharacterized.

Observation:

  • This study investigated two unrelated consanguineous Palestinian families with D-2-hydroxyglutaric aciduria.
  • Two novel pathogenic mutations in the D2HGDH gene were identified: a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp).
  • These mutations were found in one patient with a mild phenotype and two asymptomatic siblings.

Findings:

  • The identified mutations in the D2HGDH gene are associated with a mild presentation of D-2-hydroxyglutaric aciduria.

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  • Functional analysis via overexpression of the mutant protein demonstrated a marked reduction in enzyme activity.
  • This suggests a direct link between specific D2HGDH mutations and reduced enzyme function, leading to milder disease manifestations.

    • Implications:

    • These findings expand the spectrum of known D2HGDH mutations and their associated phenotypes.
    • Understanding these novel mutations aids in the genetic diagnosis and counseling for families affected by D-2-hydroxyglutaric aciduria.
    • Further research into genotype-phenotype correlations can improve patient management and therapeutic strategies for this neurometabolic disorder.