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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Sarah U Morton1,2,3, Sanjay P Prabhu4, Hart G W Lidov5

  • 1Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

Cold Spring Harbor Molecular Case Studies
|March 17, 2017
PubMed

Insights

A novel AIFM1 gene variant caused early-onset mitochondrial disease, leading to rapid deterioration and death in an infant. This case expands the known spectrum of AIFM1-related disorders.

Area of Science:

  • Genetics and Molecular Biology
  • Cellular Biology
  • Pathology

Background:

  • Apoptosis-Inducing Factor Mitochondrion-Associated 1 (AIFM1) is crucial for cellular processes including electron transport, apoptosis, and immune regulation.
  • Mutations in AIFM1 are associated with various cellular dysfunctions.

Observation:

  • A patient presented with an unprecedented AIFM1 variant, manifesting severe mitochondrial disease at a very young age.
  • The infant experienced rapid clinical decline, succumbing at 4 months of age.

Findings:

  • Autopsy revealed widespread pathology, including mitochondrial encephalopathy, myopathy, and axonal degeneration in peripheral nerves.
  • Additional findings included hepatic microvesicular steatosis, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy.

Implications:

  • This case highlights a novel AIFM1 variant contributing to a severe, early-onset mitochondrial disorder.
  • The findings broaden the understanding of AIFM1's critical role in human health and disease pathogenesis.
Keywords:
brain atrophycongenital lactic acidosiselevated brain lactate level by MRSinfantile encephalopathylethal infantile mitochondrial myopathymitochondrial encephalopathy

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