Abstract
The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the α-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the α-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (n=98) and a healthy aged control group (n=92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the α-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.
| Original language | English |
|---|---|
| Pages (from-to) | 1621-1625 |
| Number of pages | 5 |
| Journal | NeuroReport |
| Volume | 13 |
| Issue number | 13 |
| Publication status | Published - 16 Sep 2002 |
| Externally published | Yes |
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Keywords
- α-Synuclein
- CAA trinucleotide repeat
- Parkinson's Disease
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
A novel polymorphic triplet repeat in intron five of the α-synuclein gene : No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish. / Ross, Owen A.; Awayn, Nuri H.; McWhinney, Deborah; Maxwell, Lynn D.; Ali El-Agnaf, Omar; Barnett, Yvonne A.; Maeve Rea, I.; Middleton, Derek; Wallace, Andrew; Gibson, J. Mark; Curran, Martin D.
In: NeuroReport, Vol. 13, No. 13, 16.09.2002, p. 1621-1625.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel polymorphic triplet repeat in intron five of the α-synuclein gene
T2 - No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish
AU - Ross, Owen A.
AU - Awayn, Nuri H.
AU - McWhinney, Deborah
AU - Maxwell, Lynn D.
AU - Ali El-Agnaf, Omar
AU - Barnett, Yvonne A.
AU - Maeve Rea, I.
AU - Middleton, Derek
AU - Wallace, Andrew
AU - Gibson, J. Mark
AU - Curran, Martin D.
PY - 2002/9/16
Y1 - 2002/9/16
N2 - The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the α-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the α-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (n=98) and a healthy aged control group (n=92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the α-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.
AB - The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the α-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the α-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (n=98) and a healthy aged control group (n=92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the α-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.
KW - α-Synuclein
KW - CAA trinucleotide repeat
KW - Parkinson's Disease
UR - http://www.scopus.com/inward/record.url?scp=0037120274&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037120274&partnerID=8YFLogxK
M3 - Article
C2 - 12352614
AN - SCOPUS:0037120274
VL - 13
SP - 1621
EP - 1625
JO - NeuroReport
JF - NeuroReport
SN - 0959-4965
IS - 13
ER -