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Zellweger syndrome and secondary mitochondrial myopathy

Vincenzo Salpietro1, Rahul Phadke, Anand Saggar

  • 1Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK, v.salpietro@imperial.ac.uk.

European Journal of Pediatrics
|October 8, 2014
PubMed

Insights

Peroxisome defects, like Zellweger syndrome (ZS), can impair mitochondria. This study confirms secondary mitochondrial myopathy in molecularly diagnosed ZS patients, linking peroxisomal disorders to mitochondrial dysfunction.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are a group of severe genetic diseases.
  • Defects in peroxisomes disrupt various metabolic pathways, potentially affecting other organelles like mitochondria.

Observation:

  • Two infants with Zellweger syndrome exhibited typical clinical, radiological, and laboratory features.
  • Muscle biopsies revealed mitochondrial pathology, and genetic analysis identified pathogenic mutations in PEX16 and PEX12 genes.
  • Mitochondrial respiratory chain enzymology in one patient showed reduced activity in complexes II-III and IV.

Findings:

  • This study presents the first molecularly confirmed cases of peroxisomal disorder with concurrent mitochondrial myopathy.
  • Review of five previously reported children with ZS and muscle biopsy findings supports a link between peroxisomal defects and mitochondrial pathology.

Implications:

  • Secondary mitochondrial dysfunction is a significant factor in the clinical presentation of Zellweger syndrome.
  • Understanding this interplay is crucial for diagnosing and potentially treating patients with PBDs and associated mitochondrial myopathies.

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