The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease
Abstract The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence o...
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Nature Portfolio
2024-11-01
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| Series: | npj Parkinson's Disease |
| Online Access: | https://doi.org/10.1038/s41531-024-00826-8 |
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| author | Martina B. William Sharifa Hamed Ali Shalash Eman M. Khedr Mohamed H. Yousef Shaimaa El-Jaafary Gharib Fawi Asmaa Helmy Eman Hamid Mohamed Essam Hamin Lee Alina Jama Mohamed Koraym Doaa M. Mahmoud Sara Elfarrash Yasmin Elsaid Asmaa S. Gabr Nourhan Shebl Nesreen Abdelwahhab Tamer M. Belal Nehal A. B. Elsayed Mohamed El-Gamal Shimaa Elgamal Salma Ragab Jaidaa Mekky Lobna Aly Samir Nabhan Gaafar Ragab Mohamed A. Hussein Mohamed Tharwat Hegazy Henry Houlden Mohamed Salama Mie Rizig |
| author_facet | Martina B. William Sharifa Hamed Ali Shalash Eman M. Khedr Mohamed H. Yousef Shaimaa El-Jaafary Gharib Fawi Asmaa Helmy Eman Hamid Mohamed Essam Hamin Lee Alina Jama Mohamed Koraym Doaa M. Mahmoud Sara Elfarrash Yasmin Elsaid Asmaa S. Gabr Nourhan Shebl Nesreen Abdelwahhab Tamer M. Belal Nehal A. B. Elsayed Mohamed El-Gamal Shimaa Elgamal Salma Ragab Jaidaa Mekky Lobna Aly Samir Nabhan Gaafar Ragab Mohamed A. Hussein Mohamed Tharwat Hegazy Henry Houlden Mohamed Salama Mie Rizig |
| author_sort | Martina B. William |
| collection | DOAJ |
| description | Abstract The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that like other Mediterranean populations, Egyptians with PD have a higher prevalence of the p.Gly2019Ser variant compared to the global average. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population. |
| format | Article |
| id | doaj-art-bd18454391134934b92f176c2a4c3b3f |
| institution | Kabale University |
| issn | 2373-8057 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
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| series | npj Parkinson's Disease |
| spelling | doaj-art-bd18454391134934b92f176c2a4c3b3f2024-11-10T12:13:53ZengNature Portfolionpj Parkinson's Disease2373-80572024-11-011011910.1038/s41531-024-00826-8The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s diseaseMartina B. William0Sharifa Hamed1Ali Shalash2Eman M. Khedr3Mohamed H. Yousef4Shaimaa El-Jaafary5Gharib Fawi6Asmaa Helmy7Eman Hamid8Mohamed Essam9Hamin Lee10Alina Jama11Mohamed Koraym12Doaa M. Mahmoud13Sara Elfarrash14Yasmin Elsaid15Asmaa S. Gabr16Nourhan Shebl17Nesreen Abdelwahhab18Tamer M. Belal19Nehal A. B. Elsayed20Mohamed El-Gamal21Shimaa Elgamal22Salma Ragab23Jaidaa Mekky24Lobna Aly25Samir Nabhan26Gaafar Ragab27Mohamed A. Hussein28Mohamed Tharwat Hegazy29Henry Houlden30Mohamed Salama31Mie Rizig32Institute of Global Health and Human Ecology, The American University in CairoDepartment of Neurology, Faculty of Medicine, Assiut UniversityDepartment of Neurology, Faculty of Medicine, Ain Shams UniversityDepartment of Neurology, Faculty of Medicine, Assiut UniversityInstitute of Global Health and Human Ecology, The American University in CairoDepartment of Neurology, Faculty of Medicine, Cairo UniversityDepartment of Neurology, Faculty of Medicine, Sohag UniversityDepartment of Neurology, Faculty of Medicine, Ain Shams UniversityDepartment of Neurology, Faculty of Medicine, Ain Shams UniversityDepartment of Neurology, Faculty of Medicine, Ain Shams UniversityDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCLDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCLDepartment of Neurology, Faculty of Medicine, Assiut UniversityDepartment of Neurology, Faculty of Medicine, Assiut UniversityDepartment of Medical Physiology, Faculty of Medicine, Mansoura UniversityDepartment of Neurology, Faculty of Medicine, Mansoura UniversityInstitute of Global Health and Human Ecology, The American University in CairoInstitute of Global Health and Human Ecology, The American University in CairoDepartment of Neurology, Faculty of Medicine, Mansoura UniversityDepartment of Neurology, Faculty of Medicine, Mansoura UniversityDepartment of Neurology, Mansoura International HospitalDepartment of Forensic Medicine and Clinical Toxicology, Faculty of Medicine, Mansoura UniversityDepartment of Neuropsychiatry, Faculty of Medicine, Kafrelsheikh UniversityDepartment of Neuropsychiatry, Faculty of Medicine, Kafrelsheikh UniversityDepartment of Neurology, Faculty of Medicine, Alexandria UniversityDepartment of Neurology, Faculty of Medicine, Alexandria UniversityInstitute of Global Health and Human Ecology, The American University in CairoDepartment of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo UniversityDepartment of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo UniversityDepartment of Internal Medicine, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo UniversityDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCLInstitute of Global Health and Human Ecology, The American University in CairoDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCLAbstract The impact of LRRK2 variants on the risk of Parkinson’s disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that like other Mediterranean populations, Egyptians with PD have a higher prevalence of the p.Gly2019Ser variant compared to the global average. LRRK2 inhibitors could be promising therapeutic options for further exploration in this population.https://doi.org/10.1038/s41531-024-00826-8 |
| spellingShingle | Martina B. William Sharifa Hamed Ali Shalash Eman M. Khedr Mohamed H. Yousef Shaimaa El-Jaafary Gharib Fawi Asmaa Helmy Eman Hamid Mohamed Essam Hamin Lee Alina Jama Mohamed Koraym Doaa M. Mahmoud Sara Elfarrash Yasmin Elsaid Asmaa S. Gabr Nourhan Shebl Nesreen Abdelwahhab Tamer M. Belal Nehal A. B. Elsayed Mohamed El-Gamal Shimaa Elgamal Salma Ragab Jaidaa Mekky Lobna Aly Samir Nabhan Gaafar Ragab Mohamed A. Hussein Mohamed Tharwat Hegazy Henry Houlden Mohamed Salama Mie Rizig The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease npj Parkinson's Disease |
| title | The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease |
| title_full | The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease |
| title_fullStr | The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease |
| title_full_unstemmed | The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease |
| title_short | The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease |
| title_sort | p gly2019ser is a common lrrk2 pathogenic variant among egyptians with familial and sporadic parkinson s disease |
| url | https://doi.org/10.1038/s41531-024-00826-8 |
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