Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Pathogenic mutations in Parkinson disease.

Eng-King Tan1, Lisa M Skipper

  • 1Department of Neurology, Singapore General Hospital, Singapore. gnrtek@sgh.com.sg

Human Mutation
|March 28, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Combination therapy of levodopa with safinamide is more effective than with rasagiline and zonisamide in Asian Parkinson's disease patients with motor fluctuations: a systematic review and network meta-analysis of randomized controlled trials.

Journal of neurology·2026
Same author

Blood and brain tissue RNA transcriptomics reveal six potential targets of Parkinson's disease: a meta-analysis.

Journal of advanced research·2026
Same author

Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore.

Neurology. Genetics·2026
Same author

Reader Response: Association of Relative Brain Hyperperfusion Independent of Dopamine Depletion With Motor Dysfunction in Patients With Parkinson Disease.

Neurology·2026
Same author

Examination of shared gut microbiome signatures in aging and Parkinson's disease.

Frontiers in aging neuroscience·2026
Same author

CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.

Cell death discovery·2026
Same journal

RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells".

Human mutation·2026
Same journal

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026
Same journal

Exploring the Functional Impact of Individual <i>DDX41</i> Variants With a Fast and Robust Cell-Based Method.

Human mutation·2026
Same journal

Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human <i>RET</i> Gene: An In Silico Study.

Human mutation·2026
Same journal

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1.

Human mutation·2026
Same journal

Comment on "When the Outcome Contains the Exposure: Methodological Limits of a Genome-Wide Cross-Trait Analysis of Type 2 Diabetes and MASLD".

Human mutation·2026
See all related articles

Parkinson disease (PD) involves dopamine neuron loss and Lewy bodies. Genetic factors, including mutations in genes like SNCA and LRRK2, significantly contribute to PD

Area of Science:

  • Neurodegenerative Diseases
  • Molecular Pathogenesis
  • Genetics of Neurological Disorders

Background:

  • Parkinson disease (PD) is the second most common neurodegenerative disorder.
  • Pathogenesis involves dopamine neuron loss, Lewy bodies, mitochondrial dysfunction, oxidative stress, protein misfolding, and UPS dysfunction.
  • The interplay between genetic and environmental factors in PD etiology is under extensive investigation.

Purpose of the Study:

  • To review the molecular pathways underlying Parkinson disease pathogenesis.
  • To highlight the role of genetic factors, including specific gene mutations, in familial and sporadic PD.
  • To discuss the implications of genetic discoveries for understanding PD pathophysiology and potential therapeutic strategies.

Main Methods:

Related Experiment Videos

  • Literature review of studies on Parkinson disease molecular pathways.
  • Analysis of recent discoveries concerning genes associated with PD (e.g., SNCA, LRRK2).
  • Examination of gene mutation frequency, dosage effects, and penetrance in diverse ethnic groups.

    • Main Results:

    • Deficits in mitochondrial function, oxidative stress, protein aggregation, and UPS dysfunction are key molecular pathways in PD.
    • Mutations in genes such as SNCA, Parkin/PARK2, UCHL1, PINK1, DJ1/PARK7, and LRRK2 are implicated in familial and sporadic PD.
    • Gene mutation frequency varies by ethnicity, and some mutations exhibit incomplete penetrance and age-dependent effects.

    Conclusions:

    • Genetic factors play a crucial role in the pathogenesis of Parkinson disease.
    • Understanding these genetic underpinnings is vital for developing targeted neuroprotective therapies.
    • Further research into PD etiopathology may yield important biochemical or genetic biomarkers.