ArticleNeuropathology and applied neurobiology2016
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.
Article in Neuropathology and applied neurobiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 30 citations in OpenAlex.
- Cyclin D-CDK4/6 couple proliferation to membrane and mitochondrial protein supply through a DeSI1 phospho-switch.bioRxiv : the preprint server for biology · 2026Article
- The central role of mitochondrial dysfunction in neurodegeneration: implications for therapy.Molecular and cellular biochemistry · 2026Review
- MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred.Cerebellum (London, England) · 2026Observational
- Quantifying variability of mitochondrial markers in m3243A > G myopathy.Scientific reports · 2025Article
- Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.Acta neuropathologica · 2025Article
- Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction.Biochemical Society transactions · 2024Review
- The NADInternational journal of biological sciences · 2024Article
- A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.Communications biology · 2023Article
- Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.International journal of molecular sciences · 2023Review
- Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.Journal of neuromuscular diseases · 2023Article
- Early Forms ofBiomolecules · 2022Article
- Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain : a journal of neurology · 2022Observational
- Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.Frontiers in pharmacology · 2021Article
- Mechanisms of neuroplasticity and brain degeneration: strategies for protection during the aging process.Neural regeneration research · 2021Article
- Selective Neuron Vulnerability in Common and Rare Diseases-Mitochondria in the Focus.Frontiers in molecular biosciences · 2021Review
- Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.Genome biology · 2020Article
- Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.Scientific reports · 2019Article
- Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.JIMD reports · 2019Article
- Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.Nature communications · 2019Article
- The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.Brain : a journal of neurology · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
aimsCerebellar ataxia is common in patients with mitochondrial disease, and despite previous neuropathological investigations demonstrating vulnerability of the olivocerebellar pathway in patients with mitochondrial disease, the exact neurodegenerative mechanisms are still not clear. We use quantitative quadruple immunofluorescence to enable precise quantification of mitochondrial respiratory chain protein expression in Purkinje cell bodies and their synaptic terminals in the dentate nucleus.
methodsWe investigated NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 protein expression in 12 clinically and genetically defined patients with mitochondrial disease and ataxia and 10 age-matched controls. Molecular genetic analysis was performed to determine heteroplasmy levels of mutated mitochondrial DNA in Purkinje cell bodies and inhibitory synapses.
resultsOur data reveal that complex I deficiency is present in both Purkinje cell bodies and their inhibitory synapses which surround dentate nucleus neurons. Inhibitory synapses are fewer and enlarged in patients which could represent a compensatory mechanism. Mitochondrial DNA heteroplasmy demonstrated similarly high levels of mutated mitochondrial DNA in cell bodies and synapses.
conclusionsThis is the first study to use a validated quantitative immunofluorescence technique to determine complex I expression in neurons and presynaptic terminals, evaluating the distribution of respiratory chain deficiencies and assessing the degree of morphological abnormalities affecting synapses. Respiratory chain deficiencies detected in Purkinje cell bodies and their synapses and structural synaptic changes are likely to contribute to altered cerebellar circuitry and progression of ataxia.
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