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Abstract

Objective: Recently understanding genetic forms and pathogenic mutations etiopathogenesis of Parkinson’s disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson’s disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson’s disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson’s disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson’s disease

Keywords

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Türkiye'de sporadik Parkinson Hastalığı Olan Hastalarda LRRK2 Geni G2019S Mutasyonunun Araştırılması

Abstract

Amaç: Son yıllarda genetik formlarının ve patojenik mutasyonların tanımlanması ile Parkinson Hastalığının etiyopatogenezine ilişkin bilgiler artmıştır. LRRK2 geni G2019S mutasyonu otozomal dominant ve sporadik Parkinson Hastalığında en sık bildirilen nokta mutasyonudur. Çalışmamızın amacı; Eskişehir bölgesinde sporadik geç başlangıçlı Parkinson Hastalığı tanısı alan olgulardaki LRRK2 genindeki G2019S mutasyonlarının sıklığının belirlenmesi, tanısal amaçlı kullanılabilirliği ve ayrıca mutasyon saptanan olgulara hastalığı ve mutasyonu ile ilgili genetik danışmanın verilmesi amaçlanmıştır. Yöntem: Çalışmamızda sporadik Parkinson Hastalığı tanısı almış 83 olgu ve 50 normal sağlıklı kontrol bireyi incelenmiştir. LRRK2 geni 41. ekzonu DNA dizileme yöntemi ile çalışılmıştır. Bulgular: Ne hastalarda ne de kontrol grubunda herhangi bir nokta mutasyon ya da polimorfizm saptanmamıştır. Sonuç: Çalışmamız, LRRK2 geni G2019S mutasyonunun bölgemizdeki sporadik Parkinson Hastalığı tanısı alan olgulardaki sıklığının çok düşük olduğunu göstermektedir

Keywords

• G2019S, LRRK2, Parkinson Hastalığı

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