New contribution on the LRRK2 G2019S mutation associated to Parkinson’s disease: age estimation of a common founder event of old age in Moroccan Berbers
KeywordsParkinson’s disease (PD), Leucine-rich repeat kinase 2 (LRRK2) gene, G2019S mutation, Haplotype, Founding mutation.
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AbstractBackground: The LRRK2 G2019S mutation is an important genetic determinant of Parkinson&#8217;s disease (PD) across the world that occurs at an elevated frequency in North Africa. Aim: To estimate the date of the G2019S mutation in Berbers. Material and Methods: We determined the LRRK2 haplotypes in twenty-two G2019S carriers, mostly North Africans, and in one hundred twenty-four Arab, Moroccan Berber and Sephardi Jew controls, using seven microsatellite and two SNP genetic markers. Results: A single haplotype was detected, with some variations, in all mutation carriers. Using a maximum&#8211;likelihood method, we estimate that Moroccan Berbers with G2019S share a common ancestor who lived &#126;128 (95% CI 107-180) generations ago. Conclusion: Our conclusion is that the G2019S mutation of the LRRK2 gene originates 3,840 (95% CI 3,210-5,400) years ago in parkinsonian Moroccan Berbers patients.Key words: Parkinson&#8217;s disease (PD), Leucine-rich repeat kinase 2 (LRRK2) gene, G2019S mutation, Haplotype, Founding mutation.