Related Experiment Video
Updated: Aug 21, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
PINK1 (PARK6) associated Parkinson disease in Ireland
D G Healy1, P M Abou-Sleiman, J M Gibson
1Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK.
Abstract:
Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well-characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.
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