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Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case
Satomi Mezuki1,2, Kenji Fukuda3, Tomonaga Matsushita3
1Stroke Center, St. Mary's Hospital, 422 Tsubukuhonmachi, Kurume, 830-8543, Japan. smezuki@intmed2.med.kyushu-u.ac.jp.
Background:
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS.
Case Presentation:
A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes. He ultimately presented with cortical blindness, recurrent epilepsy and severe cognitive impairment approximately 6 months after the first episode. Genetic analysis of biopsied biceps brachii muscle, but not of peripheral white blood cells, revealed a T10158C mutation in the mtDNA-encoded gene of NADH dehydrogenase subunit 3 (ND3), which has previously been thought to be associated with severe or fatal mitochondrial disorders that develop during the neonatal period or in infancy.
Conclusion:
A T10158C mutation in the ND3 gene can cause atypical adult-onset stroke-like episodes in a sporadic manner.
Insights
A T10158C mutation in the ND3 gene, typically linked to severe infant disorders, can cause adult-onset stroke-like episodes. This finding expands the understanding of mitochondrial DNA mutations and their varied clinical presentations.
Area of Science:
- Genetics
- Neurology
- Mitochondrial Biology
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a common mitochondrial disease phenotype.
- MELAS typically presents in childhood or adolescence with maternal inheritance, often linked to mitochondrial DNA mutations.
Observation:
- A 55-year-old man with no prior history of mitochondrial disorders experienced sudden visual field constriction and recurrent stroke-like episodes.
- The patient developed cortical blindness, epilepsy, and cognitive decline over six months.
- Genetic analysis of muscle tissue identified a T10158C mutation in the mitochondrial DNA-encoded NADH dehydrogenase subunit 3 (ND3) gene.
Findings:
- The T10158C mutation in the ND3 gene, previously associated with severe neonatal/infantile disorders, was found in the patient.
- This mutation was detected in muscle tissue but not in peripheral white blood cells.
- The mutation was identified in a sporadic manner, without a family history of mitochondrial disorders.
Implications:
- The T10158C ND3 gene mutation can manifest as atypical adult-onset stroke-like episodes.
- This case broadens the clinical spectrum and age of onset for ND3 gene-related mitochondrial disorders.
- Diagnostic approaches for adult-onset neurological syndromes should consider mitochondrial DNA analysis, particularly in muscle tissue.
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