Related Experiment Video
Updated: Jul 14, 2026
12:55
High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay
Published on: June 1, 2014
Beta-synuclein gene variants and Parkinson's disease: a preliminary case-control study
Laura Brighina1, Njide U Okubadejo, Nicole K Schneider
1Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Neuroscience Letters
|June 9, 2007
Summary
Beta-synuclein (SNCB) gene variants were investigated for Parkinson's disease (PD) association. While not linked to PD susceptibility, one SNP (rs1352303) may delay disease onset in women.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Alpha-synuclein aggregation in Lewy bodies is implicated in Parkinson's disease (PD) pathogenesis.
- Beta-synuclein may act as a natural inhibitor of alpha-synuclein aggregation.
Purpose of the Study:
- To examine the association between two beta-synuclein (SNCB) gene polymorphisms (rs35035889 and rs1352303) and Parkinson's disease.
- To investigate if SNCB variants influence PD susceptibility or age at onset.
Main Methods:
- A case-control study utilizing 370 case-unaffected sibling pairs and 168 case-unrelated control pairs.
- Employed a liberalization of the sibling transmission disequilibrium test for association analyses.
- Analyzed individual SNPs and two-locus haplotypes for the SNCB gene.
Main Results:
- No significant association was found between the studied SNCB single nucleotide polymorphisms (SNPs) or haplotypes and overall PD risk.
- One SNP (rs1352303) showed a significant association with a delayed age at onset of PD specifically in women.
- The SNCB locus did not appear to be a primary susceptibility gene for Parkinson's disease.
Conclusions:
- The beta-synuclein (SNCB) gene may not confer susceptibility to Parkinson's disease.
- The SNCB locus, particularly the rs1352303 polymorphism, might play a role in modifying the age at onset for PD in females.
Related Concept Videos
01:24Parkinson Disease ll: Pathophysiology
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...
01:24Parkinson Disease l: Introduction
Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
01:37Neural Regulation
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
01:15Parkinson's Disease: Overview
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...