Leucine rich repeat kinase 2

To 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...

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Published inPloS one Vol. 13; no. 12; p. e0207984
Main Authors Okubadejo, Njideka U, Rizig, Mie, Ojo, Oluwadamilola O, Jonvik, Hallgeir, Oshinaike, Olajumoke, Brown, Emmeline, Houlden, Henry
Format Journal Article
LanguageEnglish
Published Public Library of Science 03.12.2018
Subjects
Africans
Dosage and administration
Drug therapy
Enzymes
Gene mutation
Genetic aspects
Health aspects
Jews
Kinase inhibitors
Medical schools
Nigerians
Parkinson disease
Technology
Nigeria
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Summary:To 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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0207984