SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population

Abstract Mutations in SNCA are rare causes of familial Parkinson’s disease (PD). We have previously described a novel p.Ala53Glu mutation in two Finnish families. To assess this mutation’s frequency among Finnish PD patients, we screened110 PD patients (mean age-of-onset 60 yrs) from Western Finland...

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Bibliographic Details
Published in:Neurobiology of aging 2017-02, Vol.50, p.168.e5-168.e8
Main Authors: Pasanen, Petra, Palin, Eino, Pohjolan-Pirhonen, Risto, Pöyhönen, Minna, Rinne, Juha O, Päivärinta, Markku, Martikainen, Mika H, Kaasinen, Valtteri, Hietala, Marja, Gardberg, Maria, Saukkonen, Anna Maija, Eerola-Rautio, Johanna, Kaakkola, Seppo, Lyytinen, Jukka, Tienari, Pentti J, Paetau, Anders, Suomalainen, Anu, Myllykangas, Liisa
Format: Article
Language:English
Subjects:
A53E
Aged
Aged, 80 and over
alpha-Synuclein - genetics
Cohort Studies
European Continental Ancestry Group - genetics
Exons - genetics
Female
Finland
Founder Effect
Genetic Association Studies
Haplotype
Haplotypes - genetics
Humans
Internal Medicine
Male
Middle Aged
Mutation
Neurology
Parkinson Disease - genetics
SNCA
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Summary:Abstract Mutations in SNCA are rare causes of familial Parkinson’s disease (PD). We have previously described a novel p.Ala53Glu mutation in two Finnish families. To assess this mutation’s frequency among Finnish PD patients, we screened110 PD patients (mean age-of-onset 60 yrs) from Western Finland by Sanger sequencing of the third coding exon of SNCA . Additionally, a sample of 47 PD subjects (mean age-of-onset 53 yrs) originating from Southern and Eastern Finland were studied using next-generation sequencing covering SNCA . Only one new individual with the p.Ala53Glu mutation was identified, confirming that this mutation is a rare cause of PD in the Finnish population. To search for a possible common origin of the p.Ala53Glu mutation, haplotype analysis was conducted in two families and in a patient from a third family (6 affected subjects) using both STR markers and a genome-wide SNP array. The results show that patients with the p.Ala53Glu mutation share a haplotype spanning a minimum of 5.7 Mb suggesting a common founder.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2016.10.014