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The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
Genetics of Parkinson's disease
1Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
Annals of Neurology
|September 28, 1998
Summary
Genetic factors contribute to Parkinson's disease (PD). While alpha-synuclein mutations are rare causes, new gene loci on chromosomes 4 and 2p13 are identified, aiding further PD gene discovery.
Area of Science:
- Neurogenetics
- Neurology
- Molecular Biology
Background:
- Familial aggregation and autosomal dominant inheritance patterns are established for Lewy body Parkinson's disease (PD).
- Previous research identified a gene locus for PD on chromosome 4, linked to alpha-synuclein.
- Sporadic and familial PD cases indicate that alpha-synuclein mutations are infrequent causes.
Purpose of the Study:
- To review the genetic basis of Lewy body Parkinson's disease.
- To discuss the identification of new genetic loci associated with PD.
- To explore strategies for discovering additional PD-related genes.
Main Methods:
- Review of case-control and twin studies demonstrating familial aggregation of PD.
- Genetic linkage analysis in large multigenerational families with autosomal dominant PD.
- Mutation screening in the alpha-synuclein gene and analysis of sporadic PD cases.
Main Results:
- A PD-associated locus was mapped to chromosome 4, with a mutation identified in the alpha-synuclein gene.
- Mutations in alpha-synuclein were found to be a rare cause of both familial and sporadic PD.
- A novel locus for autosomal dominantly inherited Lewy body PD was mapped to chromosome 2p13.
Conclusions:
- While alpha-synuclein is implicated, it is not a common cause of PD.
- Further research is needed to identify additional genes contributing to PD etiology.
- Mapping of new loci provides avenues for future genetic investigations into Parkinson's disease.
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