Early-Onset Parkinson Disease Screening in Patients From Nigeria
Introduction: Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD...
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Frontiers Media S.A.
2021-01-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2020.594927/full |
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| author | Lukasz M. Milanowski Lukasz M. Milanowski Olajumoke Oshinaike Benjamin J. Broadway Jennifer A. Lindemann Alexandra I. Soto-Beasley Ronald L. Walton Rana Hanna Al-Shaikh Audrey J. Strongosky Fabienne C. Fiesel Fabienne C. Fiesel Owen A. Ross Owen A. Ross Owen A. Ross Wolfdieter Springer Wolfdieter Springer Shamsideen Abayomi Ogun Zbigniew K. Wszolek |
| author_facet | Lukasz M. Milanowski Lukasz M. Milanowski Olajumoke Oshinaike Benjamin J. Broadway Jennifer A. Lindemann Alexandra I. Soto-Beasley Ronald L. Walton Rana Hanna Al-Shaikh Audrey J. Strongosky Fabienne C. Fiesel Fabienne C. Fiesel Owen A. Ross Owen A. Ross Owen A. Ross Wolfdieter Springer Wolfdieter Springer Shamsideen Abayomi Ogun Zbigniew K. Wszolek |
| author_sort | Lukasz M. Milanowski |
| collection | DOAJ |
| description | Introduction: Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD (EOPD) cases from Nigeria for PRKN, PINK1, DJ1, SNCA multiplication, and LRRK2 p.G2019S.Methods: We assembled a cohort of 109 Nigerian patients with PD from the four main Nigerian tribes: Yoruba, Igbo, Edo, and Hausa. Fifteen cases [14 from the Yoruba tribe (93.3%)] had EOPD (defined as age-at-onset <50 years). All patients with EOPD were sequenced for the coding regions of PRKN, PINK1, and DJ1. Exon dosage analysis was performed with a multiplex ligation-dependent probe amplification assay, which also included a SNCA probe and LRRK2 p.G2019S. We screened for LRRK2 p.G2019S in the entire PD cohort using a genotyping assay. The PINK1 p.R501Q functional analysis was conducted.Results: In 15 patients with EOPD, 22 variants were observed [PRKN, 9 (40.9%); PINK1, 10 (45.5%); and DJ1, 3 (13.6%)]. Three (13.6%) rare, nonsynonymous variants were identified, but no homozygous or compound heterozygous carriers were found. No exonic rearrangements were present in the three genes, and no carriers of SNCA genomic multiplications or LRRK2 p.G2019S were identified. The PINK1 p.R501Q functional analysis revealed pathogenic loss of function.Conclusion: More studies on age-related neurodegenerative diseases are needed in sub-Saharan African countries, including Nigeria. Population-specific variation may provide insight into the genes involved in PD in the local population but may also contribute to larger studiesperformed in White and Asian populations. |
| first_indexed | 2024-12-14T03:06:39Z |
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| id | doaj.art-53171b24c12d4f2ea92cd65fbb54a435 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-14T03:06:39Z |
| publishDate | 2021-01-01 |
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| series | Frontiers in Neurology |
| spelling | doaj.art-53171b24c12d4f2ea92cd65fbb54a4352022-12-21T23:19:23ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-01-011110.3389/fneur.2020.594927594927Early-Onset Parkinson Disease Screening in Patients From NigeriaLukasz M. Milanowski0Lukasz M. Milanowski1Olajumoke Oshinaike2Benjamin J. Broadway3Jennifer A. Lindemann4Alexandra I. Soto-Beasley5Ronald L. Walton6Rana Hanna Al-Shaikh7Audrey J. Strongosky8Fabienne C. Fiesel9Fabienne C. Fiesel10Owen A. Ross11Owen A. Ross12Owen A. Ross13Wolfdieter Springer14Wolfdieter Springer15Shamsideen Abayomi Ogun16Zbigniew K. Wszolek17Department of Neurology, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neurology, Lagos State University Teaching Hospital, Lagos, NigeriaDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesNeuroscience PhD Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesNeuroscience PhD Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, United StatesDepartment of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, United StatesDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United StatesNeuroscience PhD Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, United StatesDepartment of Neurology, Lagos State University Teaching Hospital, Lagos, NigeriaDepartment of Neurology, Mayo Clinic Florida, Jacksonville, FL, United StatesIntroduction: Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD (EOPD) cases from Nigeria for PRKN, PINK1, DJ1, SNCA multiplication, and LRRK2 p.G2019S.Methods: We assembled a cohort of 109 Nigerian patients with PD from the four main Nigerian tribes: Yoruba, Igbo, Edo, and Hausa. Fifteen cases [14 from the Yoruba tribe (93.3%)] had EOPD (defined as age-at-onset <50 years). All patients with EOPD were sequenced for the coding regions of PRKN, PINK1, and DJ1. Exon dosage analysis was performed with a multiplex ligation-dependent probe amplification assay, which also included a SNCA probe and LRRK2 p.G2019S. We screened for LRRK2 p.G2019S in the entire PD cohort using a genotyping assay. The PINK1 p.R501Q functional analysis was conducted.Results: In 15 patients with EOPD, 22 variants were observed [PRKN, 9 (40.9%); PINK1, 10 (45.5%); and DJ1, 3 (13.6%)]. Three (13.6%) rare, nonsynonymous variants were identified, but no homozygous or compound heterozygous carriers were found. No exonic rearrangements were present in the three genes, and no carriers of SNCA genomic multiplications or LRRK2 p.G2019S were identified. The PINK1 p.R501Q functional analysis revealed pathogenic loss of function.Conclusion: More studies on age-related neurodegenerative diseases are needed in sub-Saharan African countries, including Nigeria. Population-specific variation may provide insight into the genes involved in PD in the local population but may also contribute to larger studiesperformed in White and Asian populations.https://www.frontiersin.org/articles/10.3389/fneur.2020.594927/fullNigerian populationMLPASanger sequencingLRRK2PRKNPINK1 |
| spellingShingle | Lukasz M. Milanowski Lukasz M. Milanowski Olajumoke Oshinaike Benjamin J. Broadway Jennifer A. Lindemann Alexandra I. Soto-Beasley Ronald L. Walton Rana Hanna Al-Shaikh Audrey J. Strongosky Fabienne C. Fiesel Fabienne C. Fiesel Owen A. Ross Owen A. Ross Owen A. Ross Wolfdieter Springer Wolfdieter Springer Shamsideen Abayomi Ogun Zbigniew K. Wszolek Early-Onset Parkinson Disease Screening in Patients From Nigeria Frontiers in Neurology Nigerian population MLPA Sanger sequencing LRRK2 PRKN PINK1 |
| title | Early-Onset Parkinson Disease Screening in Patients From Nigeria |
| title_full | Early-Onset Parkinson Disease Screening in Patients From Nigeria |
| title_fullStr | Early-Onset Parkinson Disease Screening in Patients From Nigeria |
| title_full_unstemmed | Early-Onset Parkinson Disease Screening in Patients From Nigeria |
| title_short | Early-Onset Parkinson Disease Screening in Patients From Nigeria |
| title_sort | early onset parkinson disease screening in patients from nigeria |
| topic | Nigerian population MLPA Sanger sequencing LRRK2 PRKN PINK1 |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2020.594927/full |
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