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The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease

  • Jin-Whan Cho (a1), Sung-Yeon Kim (a2), Sung-Sup Park (a2), Han-Jun Kim (a3), Tae-Beom Ahn (a4), Jong-Min Kim (a5) and Beom-Seok Jeon (a6)...

Abstract

Background:

A number of causative mutations such as a-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified in Parkinson's disease (PD). They are usually found in the familial cases. One mutation of great interest is the G2019S mutation in the LRRK2 gene, which has been reported in both familial and sporadic PD. Its prevalence has been reported to vary markedly among different races. We examined the prevalence of the G2019S mutation in the Korean PD population for genetic study planning.

Methods:

We conducted a genetic analysis of the G2019S mutation by standard PCR and restriction digestion method. 453 PD patients were studied, 34% of whom had an age at onset of <50 years and 3.8% had a positive family history.

Results:

None of the 453 study subjects carried the G2019S mutation.

Conclusion:

Our result confirms previous reports that the G2019S mutation is rare among PD patients in the Asian population. This result supports the notion that the prevalence of this LRRK2 mutation is population specific, and that there may be a founder effect within western populations.

RÉSUMÉ: Contexte:

Quelques mutations causales ont été identifiées dans la maladie de Parkinson (MP) telles des mutations des gènes de l'a-synucléine, de la parkine, de l'UCHL1, de la Pink-1 et de la DJ-1. Il s'agit habituellement de cas familiaux. La mutation G2019S du gène LRRK2, qui a été rapportée chez des cas familiaux de MP et chez des cas sporadiques, est très intéressante. Sa prévalence varie beaucoup selon la race. Nous avons examiné la prévalence de la mutation G2019S dans la population coréenne de patients atteints de la maladie de Parkinson afin de planifier une étude génétique.

Méthodes:

Nous avons réalisé une analyse génétique de la mutation G2019S par la méthode standard d'amplification en chaîne par polymérase et digestion par enzyme de restriction. 453 patients atteints de MP ont été étudiés. L'âge de début était < 50 ans chez 34% des patients et 3,8% avaient une histoire familiale de MP.

Résultats:

Aucun des 453 patients n'était porteur de la mutation G2019S.

Conclusions:

Nos résultats confirment des publications antérieures selon lesquelles la mutation G2019S est rare chez les patients atteints de la MP dans la population asiatique. Ce résultat appui la notion que la prévalence de cette mutation du gène LRRK2 est spécifique de la population et qu'il pourrait exister un effet fondateur dans les populations occidentales.

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References

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