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Expanding the clinical phenotypes of MT-ATP6 mutations

Ester López-Gallardo1, Sonia Emperador1, Abelardo Solano2

  • 1Departamento de Bioquímica, Biología Molecular y Celular, Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain, Centro de Investigaciones Biomédicas en red de Enfermedades Raras (CIBERER), Spain.

Human Molecular Genetics
|July 3, 2014
PubMed

Insights

Screening the MT-ATP6 gene identified three new mutations in mitochondrial DNA disorders. This highlights the importance of MT-ATP6 gene sequencing, even in patients without typical oxidative phosphorylation dysfunction signs.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Mitochondrial DNA (mtDNA) mutations in the MT-ATP6 gene are common in striatal necrosis syndromes.
  • Patients often lack clear histochemical or biochemical signs of oxidative phosphorylation dysfunction.
  • This leads to MT-ATP6 not being routinely screened in many mitochondrial disorders.

Purpose of the Study:

  • To investigate the role of MT-ATP6 gene mutations in a broader range of mitochondrial DNA disorders.
  • To identify novel pathogenic mutations within the MT-ATP6 gene.
  • To correct the diagnostic bias against analyzing MT-ATP6 in atypical cases.

Main Methods:

  • Screening of the MT-ATP6 gene in a large cohort of patients with suspected mitochondrial DNA disorders.
  • Biochemical, molecular-genetics, and cybrid analyses were performed in selected cases.
  • Phenotypic correlation with identified mutations.

Main Results:

  • Three novel pathogenic MT-ATP6 gene mutations were identified.
  • Two mutations were found in patients with phenotypes not typically associated with MT-ATP6 mutations.
  • Confirmed the presence of mutations despite normal oxidative phosphorylation test results in some patients.

Conclusions:

  • Sequencing the MT-ATP6 gene is crucial for diagnosing striatal necrosis syndromes.
  • MT-ATP6 gene analysis should be extended to other mitochondrial pathologies, especially when respiratory chain analyses are normal.
  • This broadens the diagnostic scope for mitochondrial DNA disorders.

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