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Riboflavin-responsive complex I deficiency

H R Scholte1, H F Busch, H D Bakker

  • 1Department of Biochemistry (Cardiovascular Research Institute, COEUR), Erasmus University Rotterdam, The Netherlands.

Biochimica Et Biophysica Acta
|May 24, 1995
PubMed
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Riboflavin supplementation improved exercise intolerance in patients with low mitochondrial complex I activity. Muscle biopsies showed increased mitochondria and complex I activity after treatment, suggesting a therapeutic benefit.

Area of Science:

  • Biochemistry
  • Mitochondrial Medicine
  • Genetics

Background:

  • Exercise intolerance can stem from mitochondrial dysfunction.
  • Complex I deficiency, a common mitochondrial disorder, impacts cellular energy production.

Observation:

  • Patients with exercise intolerance showed significantly reduced muscle complex I activity.
  • Riboflavin (vitamin B2) supplementation led to improved exercise capacity and endurance.
  • Histological analysis revealed an increase in subsarcolemmal mitochondria post-treatment.

Findings:

  • Muscle biopsies demonstrated a marked increase in complex I activity after riboflavin supplementation.
  • Mitochondria from affected patients were deficient in oxidizing NAD(+)-linked substrates but not succinate.
  • Carnitine deficiency was observed in some patients and their family members.

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Implications:

  • High-dose riboflavin may be a viable therapeutic strategy for specific mitochondrial complex I deficiencies.
  • Understanding the role of riboflavin and carnitine in mitochondrial function is crucial for treating related disorders.
  • Age-related decline in cytochrome c oxidase activity suggests oxidative stress in aging mitochondria.