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Related Experiment Videos

Succinate dehydrogenase deficiency.

G D Vladutiu1, R R Heffner

  • 1Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, NY 14209, USA. mitomaren@aol.com

Archives of Pathology & Laboratory Medicine
|December 2, 2000
PubMed
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Partial succinate dehydrogenase deficiency is common in mitochondrial myopathy patients. Histochemical analysis of muscle biopsies effectively detects this deficiency, aiding diagnosis.

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Partial succinate dehydrogenase deficiency (SDH) in skeletal muscle leads to mitochondrial myopathy, causing symptoms like brain involvement, cardiomyopathy, and exercise intolerance.
  • This deficiency can be isolated or co-occur with other respiratory-chain enzyme defects.
  • Current histopathologic assessment for SDH deficiency in muscle biopsies often focuses on increased staining (ragged-red fibers) rather than reduced activity.

Purpose of the Study:

  • To determine the prevalence of muscle succinate dehydrogenase deficiency in patients with respiratory-chain defects.
  • To assess if reduced SDH activity is detectable via histochemistry and comparable to quantitative biochemical reductions.

Main Methods:

  • Evaluation of 108 muscle biopsies from patients with suspected mitochondrial myopathies.

Related Experiment Videos

  • Utilized both qualitative histochemical analysis and quantitative biochemical analyses of respiratory-chain enzymes.

    • Main Results:

    • Respiratory-chain defects were found in 52 patients; 12 (23%) had partial SDH deficiencies.
    • Reduced SDH activity was histochemically detectable in biopsies with up to 34% residual enzyme activity.
    • Biopsies with higher residual activity (49% and 68%) were indistinguishable from normal.

    Conclusions:

    • Twenty-three percent of patients with respiratory-chain enzyme defects exhibited partial succinate dehydrogenase deficiency in muscle biopsies.
    • Histochemical analysis successfully detected this reduction in most cases.
    • The high prevalence and initial histochemical detectability of SDH deficiency are significant findings for diagnosing mitochondrial myopathies.