Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.

ABSTRACT:

Aims

Cerebellar 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.

Methods

We 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 heteroplas

SUBMITTER: Chrysostomou A 

PROVIDER: S-EPMC4973693 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature