Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease

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dc.contributor.authorOkubadejo, N.U.
dc.contributor.authorRizig, M
dc.contributor.authorOjo, O.O.
dc.contributor.authorJonvik, H
dc.contributor.authorOshinaike, O.
dc.contributor.authorBrown, E.
dc.contributor.authorHoulden, H.
dc.date.accessioned2019-10-31T08:09:41Z
dc.date.available2019-10-31T08:09:41Z
dc.date.issued2018-12-03
dc.descriptionStaff publicationsen_US
dc.description.abstractTo date the LRRK2 p.G2019S mutation remains the most common genetic cause of Parkinson disease (PD) worldwide. It accounts for up to 6% of familial and approximately 1.5% of sporadic cases. LRRK2 has a kinase enzymatic domain which provides an attractive potential target for drug therapies and LRRK2 kinase inhibitors are in development. Prevalence of the p.G2019S has a variable ethnic and geographic distribution, the highest reported among Ashkenazi Jews (30% in patients with familial PD, 14% in sporadic PD, 2.0% in controls) and North African Berbers (37% in patients with familial PD, 41% in sporadic PD, and 1% in controls). Little is known about the frequency of the LRRK2 p.G2019S among populations in sub-Saharan Africa. Our group and others previously reported that the p.G2019S is absent in a small cohort of Nigerian PD patients and controls. Here we used Kompetitive Allele Specific PCR (KASP) assay to screen for the p.G2019S in a larger cohort of Black African PD patients (n = 126) and healthy controls (n = 54) from Nigeria. Our analysis confirmed that all patients and controls are negative for the p.G2019S mutation. This report provides further evidence that the LRRK2 p.G2019S is not implicated in PD in black populations from Nigeria and support the notion that p.G2019S mutation originated after the early human dispersal from sub-Saharan Africa. Further studies using larger cohorts and advance sequencing technology are required to underpin the genetic causes of PD in this region.en_US
dc.description.sponsorshipUniversity of Lagos (Central Research Committee)en_US
dc.identifier.citationOkubadejo NU, Rizig M, Ojo OO, Jonvik H, Oshinaike O, Brown E, Houlden H. Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease. PLoS One. 2018 Dec 3;13(12):e0207984.en_US
dc.identifier.otherdoi: 10.1371/journal.pone.0207984.
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6617
dc.language.isoenen_US
dc.publisherPublic Library of Science (PLOS)en_US
dc.relation.ispartofseriesPLoS One;Vol.13(12)
dc.subjectParkinson diseaseen_US
dc.subjectGeneticsen_US
dc.subjectAfricaen_US
dc.subjectNigeriaen_US
dc.subjectLRRK2en_US
dc.subjectResearch Subject Categories::MEDICINEen_US
dc.titleLeucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson diseaseen_US
dc.typeArticleen_US
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