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Updated: Oct 10, 2026
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
[A patient of MELAS with 3271 mutation with fatal outcome after alcohol intake]
Abstract:
A patient of MELAS is reported. A 28-year-old woman was admitted to Shimada Municipal Hospital because of nausea, vomiting, and right homonymous hemianopsia. She had past history of dizziness and convulsion. A brain magnetic resonance imaging showed an ischemic lesion in the left occipital lobe, which disappeared in the follow-up study. Laboratory examination indicated elevated lactate and pyruvate levels in both blood and cerebrospinal fluid. The muscle biopsy demonstrated ragged-red fibers and strongly SDH-reactive blood vessels. PCR-RFLP analysis of DNA extracted from her muscle and blood as well as her mother's blood revealed a T to C mutation at nucleophile position of 3271 in mitochondrial DNA. She was diagnosed as having MELAS and discharged. One year after the first admission, she re-visited our hospital because of three days' duration of fatigability and generalized muscle pain after alcohol intake. She had severe lactic acidosis, rhabdomyolysis and acute renal failure. Despite a continuous hemodialysis and other intensive efforts, the patient died 20 hours later. Alcohol intake has been reported to induce rhabdomyolysis in myopathy with mitochondrial DNA deletions. The course of this patient suggests that alcohol intake can be an aggravating factor also in MELAS.
Insights
This case report details a patient with MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) who experienced severe complications after alcohol consumption. The findings suggest alcohol may worsen MELAS, leading to potentially fatal outcomes like rhabdomyolysis and renal failure.
Area of Science:
- Neurology
- Mitochondrial Medicine
- Genetics
Background:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder.
- Characterized by stroke-like episodes, lactic acidosis, and ragged-red fibers on muscle biopsy.
- Genetic mutations in mitochondrial DNA are the primary cause.
Observation:
- A 28-year-old woman presented with stroke-like symptoms, elevated lactate/pyruvate, and ragged-red fibers.
- Genetic analysis revealed a T-to-C mutation at np 3271 in mitochondrial DNA.
- Following alcohol intake, the patient developed severe lactic acidosis, rhabdomyolysis, and acute renal failure.
Findings:
- The patient was diagnosed with MELAS based on clinical and laboratory findings.
- A specific mitochondrial DNA mutation (m.3271T>C) was identified.
- Alcohol consumption precipitated a fatal exacerbation of her MELAS.
Implications:
- This case highlights alcohol as a potential aggravating factor in MELAS.
- Suggests careful counseling regarding alcohol intake for MELAS patients.
- Underscores the severe and potentially fatal consequences of metabolic decompensation in mitochondrial disorders.
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