Autere JM, Hiltunen MJ, Mannermaa AJ, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS.

Molecular genetic analysis of the a-synuclein and the parkin gene in Parkinson’s disease in Finland.

Eur J Neurol 2002;9:479-483

Abstract

Two mutations in the a-synuclein gene and various mutations in the parkin gene are associated with familial Parkinson’s disease (PD). The present study was performed to analyse if mutations in these genes could be detected in Finnish patients with familial PD. The subjects comprised 22 unrelated patients with familial PD. The molecular genetic analysis consisted of sequence analysis of the non-coding and coding exons of the a-synuclein gene and screening of eight point mutations in the parkin gene. In addition, a total of 67 controls and 45 patients with sporadic PD were included in the association analysis on polymorphism of the a-synuclein gene. Screened point mutations in the parkin gene were not detected. Sequencing of the coding exons 2-6 of the a-synuclein gene did not reveal any mutations or polymorphisms. However, three novel alterations in the T₁₀A₇ sequence at the 5' end of the non-coding exon 1' of the a-synuclein gene were found. The frequencies of the exon 1' polymorphic genotypes or alleles between familial PD patients and control subjects revealed no statistically significant differences. No association for sporadic PD was observed. The results do not support a role for the a-synuclein gene or point mutations of the parkin gene in familial PD in our sample.