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Updated: Aug 30, 2026

Histological Examination of Mitochondrial Morphology in a Parkinson's Disease Model
Published on: June 23, 2023
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
Abelardo Solano1, Manuel Roig, Cristofol Vives-Bauza
1Departamento de Bioquímica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.
Abstract:
We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.
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