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

Publication date: February 2017
Source:Neurobiology of Aging, Volume 50
Author(s): Petra Pasanen, Eino Palin, Risto Pohjolan-Pirhonen, Minna Pöyhönen, Juha O. Rinne, Markku Päivärinta, Mika H. Martikainen, Valtteri Kaasinen, Marja Hietala, Maria Gardberg, Anna Maija Saukkonen, Johanna Eerola-Rautio, Seppo Kaakkola, Jukka Lyytinen, Pentti J. Tienari, Anders Paetau, Anu Suomalainen, Liisa Myllykangas
Mutations in SNCA are rare causes of familial Parkinson's disease (PD). We have previously described a novel p.Ala53Glu mutation in 2 Finnish families. To assess this mutation's frequency among Finnish PD patients, we screened 110 PD patients (mean age-of-onset 60 years) from Western Finland by Sanger sequencing of the third coding exon of SNCA. In addition, a sample of 47 PD subjects (mean age-of-onset 53 years) 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 2 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.



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