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An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation

Makoto Nishioka1, Yuji Inaba2, Mitsuo Motobayashi3

  • 1Department of Pediatrics, Shinshu University School of Medicine, Japan.

Brain & Development
|March 5, 2018
PubMed

Insights

A rare BOLA3 gene mutation caused severe mitochondrial dysfunction, leading to rapid white matter lesions and hypertrophic cardiomyopathy in an infant. This genetic defect is critical for electron transport and iron-sulfur cluster production.

Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Mitochondrial dysfunction underlies various organ disorders stemming from genetic abnormalities.
  • The BOLA3 gene is implicated in cellular energy production and metabolic processes.

Observation:

  • A 6-month-old infant presented with developmental regression and feeding issues.
  • Clinical presentation included hypertrophic cardiomyopathy and extensive white matter lesions on MRI.
  • The infant experienced seizures and respiratory failure, with rapid disease progression.

Findings:

  • Cerebrospinal fluid analysis revealed high lactate levels, indicating mitochondrial dysfunction.
  • Fibroblast cultures showed reduced mitochondrial respiratory chain complex I and II activity.
  • A homozygous H96R mutation in the BOLA3 gene was identified.

Implications:

  • Homozygous BOLA3 mutations are associated with severe, early-onset disease, with no reported survival past one year.
  • BOLA3 is crucial for the electron transport system and iron-sulfur cluster synthesis.
  • This mutation impacts lipid metabolism and enzyme biosynthesis, highlighting BOLA3's critical role.
Abstract

Keywords:
BOLA3 geneCardiomyopathyEncephalopathyMagnetic resonance imagingMitochondrial respiratory chain complexes

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