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Parkinson Disease ll: Pathophysiology

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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

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Related Experiment Video

Updated: May 26, 2026

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

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Screening for VPS35 mutations in Parkinson's disease.

Una-Marie Sheerin¹, Gavin Charlesworth, Jose Bras

¹Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

Neurobiology of Aging

|December 14, 2011

Summary

The VPS35 gene mutation c.1858G>A (p.Asp620Asn) is an uncommon cause of familial Parkinson's disease (PD). Researchers sequenced VPS35 in PD cases, finding this mutation in one family.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Autosomal dominant Parkinson's disease (PD) has been linked to a VPS35 gene mutation (c.1858G>A; p.Asp620Asn).
The frequency and role of this mutation in PD etiology require further investigation.

Purpose of the Study:

To determine the prevalence of the VPS35 c.1858G>A mutation in Parkinson's disease.
To identify other potential pathogenic variants within the VPS35 gene.

Main Methods:

Sequencing of all 17 exons of the VPS35 gene in 96 familial PD cases.
Targeted sequencing of VPS35 exon 15 in additional familial PD (64 cases), young-onset PD (175 cases), and sporadic PD (262 cases) cohorts.
Family segregation analysis to confirm mutation pathogenicity.

Main Results:

The VPS35 c.1858G>A mutation (p.Asp620Asn) was identified in one individual with autosomal dominant PD.
Segregation analysis confirmed the mutation in affected family members.
No other disease-causing mutations in VPS35 were detected.

Conclusions:

The VPS35 c.1858G>A mutation is a rare cause of familial Parkinson's disease in the studied population.
VPS35 mutations are not a frequent cause of Parkinson's disease in general.
Further research is needed to fully elucidate the genetic landscape of Parkinson's disease.