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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an

Mike Gerards1, Bianca J C van den Bosch, Katharina Danhauser

  • 1Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, 6200 MD Maastricht, The Netherlands.

Brain : a Journal of Neurology
|October 9, 2010
PubMed
Summary

Mitochondrial complex I deficiency, a common oxidative phosphorylation defect, is linked to ACAD9 gene mutations. This discovery offers new insights into genetic causes and potential riboflavin treatment for patients.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Mitochondrial complex I deficiency is the most frequent oxidative phosphorylation disorder.
  • Genetic causes for many patients with this deficiency remain unknown, suggesting involvement of novel genes.

Purpose of the Study:

  • To identify the genetic basis of mitochondrial complex I deficiency in a consanguineous family with early-onset symptoms.
  • To investigate the role of ACAD9 in mitochondrial complex I function and its potential therapeutic implications.

Main Methods:

  • Homozygosity mapping to identify candidate genes on chromosome three.
  • Mutation screening of mitochondria-related genes, including ACAD9.
  • Functional studies using patient-derived fibroblasts transduced with wild-type and mutant ACAD9.
  • Protein modeling to predict the functional impact of identified mutations.

Main Results:

  • A homozygous mutation (c.1594 C>T) in ACAD9 was identified in affected family members, leading to R532W substitution.
  • Protein modeling suggested the mutation disrupts protein structure and function.
  • Transduction with wild-type ACAD9 restored complex I activity in patient fibroblasts, while mutant ACAD9 did not.
  • Two likely pathogenic compound heterozygous mutations in ACAD9 were found in an unrelated patient.

Conclusions:

  • ACAD9 plays a crucial role in mitochondrial complex I function.
  • ACAD9 mutations are a significant new cause of mitochondrial complex I deficiency.
  • High-dose riboflavin treatment may improve symptoms and complex I activity in patients with ACAD9 mutations.