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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

Tobias B Haack1, Katharina Danhauser, Birgit Haberberger

  • 1Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

Nature Genetics
|November 9, 2010
PubMed
Summary
This summary is machine-generated.

Genetic mutations in ACAD9 cause isolated complex I deficiency, a common mitochondrial disorder. This study identified new ACAD9 gene variants, clarifying the molecular basis of this condition.

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Area of Science:

  • Biochemistry
  • Genetics
  • Mitochondrial Medicine

Background:

  • Isolated defects in respiratory chain complex I activity are common in mitochondrial disorders.
  • The molecular causes for most complex I deficiencies remain unidentified.
  • Mitochondrial disorders significantly impact cellular energy production and overall health.

Purpose of the Study:

  • To identify the genetic basis of isolated complex I deficiency in a patient.
  • To investigate the role of ACAD9 gene mutations in mitochondrial complex I dysfunction.
  • To determine the frequency of ACAD9 mutations in a cohort of patients with complex I defects.

Main Methods:

  • Whole-exome sequencing was performed on an individual with severe complex I deficiency.
  • Bioinformatic filtering prioritized mitochondrial proteins.
  • Functional studies involved expressing wildtype ACAD9 in patient-derived fibroblasts.
  • ACAD9 gene screening was conducted in 120 additional patients.

Main Results:

  • Compound heterozygous mutations in the ACAD9 gene were identified in the proband.
  • Expression of wildtype ACAD9 corrected the complex I defect in patient fibroblasts, confirming pathogenicity.
  • ACAD9 mutations were found in two additional unrelated cases, identifying five pathogenic alleles overall.

Conclusions:

  • ACAD9 mutations are a significant cause of isolated complex I deficiency.
  • ACAD9 encodes a protein involved in mitochondrial function and complex I assembly/stability.
  • Genetic screening of ACAD9 is crucial for diagnosing patients with unexplained complex I defects.