Parkinson's Disease in Saudi Patients: A Genetic Study
Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, mo...
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Published in | PloS one Vol. 10; no. 8; p. e0135950 |
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Main Authors | , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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Public Library of Science
14.08.2015
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Abstract | Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored. Here we investigated the genetic causes of PD in Saudis by recruiting 98 PD-cases (sporadic and familial) and screening them for potential pathogenic mutations in PD-established genes; SNCA, PARKIN, PINK1, PARK7/DJ1, LRRK2 and other PD-associated genes using direct sequencing. To our surprise, the screening revealed only three pathogenic point mutations; two in PINK1 and one in PARKIN. In addition to mutational analysis, CNV and cDNA analysis was performed on a subset of patients. Exon/intron dosage alterations in PARKIN were detected and confirmed in 2 cases. Our study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes. |
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AbstractList | Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored. Here we investigated the genetic causes of PD in Saudis by recruiting 98 PD-cases (sporadic and familial) and screening them for potential pathogenic mutations in PD-established genes; SNCA, PARKIN, PINK1, PARK7/DJ1, LRRK2 and other PD-associated genes using direct sequencing. To our surprise, the screening revealed only three pathogenic point mutations; two in PINK1 and one in PARKIN. In addition to mutational analysis, CNV and cDNA analysis was performed on a subset of patients. Exon/intron dosage alterations in PARKIN were detected and confirmed in 2 cases. Our study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes. Parkinson’s disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored. Here we investigated the genetic causes of PD in Saudis by recruiting 98 PD-cases (sporadic and familial) and screening them for potential pathogenic mutations in PD-established genes; SNCA , PARKIN , PINK1 , PARK7 / DJ1 , LRRK2 and other PD-associated genes using direct sequencing. To our surprise, the screening revealed only three pathogenic point mutations; two in PINK1 and one in PARKIN . In addition to mutational analysis, CNV and cDNA analysis was performed on a subset of patients. Exon/intron dosage alterations in PARKIN were detected and confirmed in 2 cases. Our study suggests that mutations in the ORF of the screened genes are not a common cause of PD in Saudi population; however, these findings by no means exclude the possibility that other genetic events such as gene expression/dosage alteration may be more common nor does it eliminate the possibility of the involvement of novel genes. |
Audience | Academic |
Author | Al-Mubarak, Bashayer R Abou Al-Shaar, Hussam AlAbdulaziz, Basma S Khalil, Dania S Alyemni, Eman A Bohlega, Saeed A Magrashi, Amna I Mustafa, Abeer E Alsaffar, Bashayer A AlTurki, Maha I Al Tassan, Nada A Alkhairallah, Thamer S Tahir, Asma I |
AuthorAffiliation | 3 King Abdulaziz City for Science and Technology, Kingdom of Saudi Arabia, Riyadh, Saudi Arabia 2 Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia National Institutes of Health, UNITED STATES 1 Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia |
AuthorAffiliation_xml | – name: 3 King Abdulaziz City for Science and Technology, Kingdom of Saudi Arabia, Riyadh, Saudi Arabia – name: 2 Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – name: National Institutes of Health, UNITED STATES – name: 1 Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia |
Author_xml | – sequence: 1 givenname: Bashayer R surname: Al-Mubarak fullname: Al-Mubarak, Bashayer R organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 2 givenname: Saeed A surname: Bohlega fullname: Bohlega, Saeed A organization: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 3 givenname: Thamer S surname: Alkhairallah fullname: Alkhairallah, Thamer S organization: Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 4 givenname: Amna I surname: Magrashi fullname: Magrashi, Amna I organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 5 givenname: Maha I surname: AlTurki fullname: AlTurki, Maha I organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 6 givenname: Dania S surname: Khalil fullname: Khalil, Dania S organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 7 givenname: Basma S surname: AlAbdulaziz fullname: AlAbdulaziz, Basma S organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 8 givenname: Hussam surname: Abou Al-Shaar fullname: Abou Al-Shaar, Hussam organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 9 givenname: Abeer E surname: Mustafa fullname: Mustafa, Abeer E organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 10 givenname: Eman A surname: Alyemni fullname: Alyemni, Eman A organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 11 givenname: Bashayer A surname: Alsaffar fullname: Alsaffar, Bashayer A organization: King Abdulaziz City for Science and Technology, Kingdom of Saudi Arabia, Riyadh, Saudi Arabia – sequence: 12 givenname: Asma I surname: Tahir fullname: Tahir, Asma I organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 13 givenname: Nada A surname: Al Tassan fullname: Al Tassan, Nada A organization: Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26274610$$D View this record in MEDLINE/PubMed |
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Copyright | COPYRIGHT 2015 Public Library of Science 2015 Al-Mubarak et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. 2015 Al-Mubarak et al 2015 Al-Mubarak et al |
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Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 Competing Interests: The authors have declared that no competing interests exist. Conceived and designed the experiments: NAA. Performed the experiments: AIM MIA DSK BSA HAA AEM EAA BAA AIT. Analyzed the data: AIM MIA DSK BSA HAA AEM EAA NAA BRA BAA AIT. Wrote the paper: BRA NAA AIT. Data interpretation: NAA BRA AIT. Patients recruitment and clinical diagnosis: SAB TSA. |
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Snippet | Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss... Parkinson’s disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss... |
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SubjectTerms | Adolescent Adult Analysis Basal ganglia Brain diseases Brain research Case-Control Studies Central nervous system diseases Child Child, Preschool Dopamine receptors Dosage Etiology Family medical history Female Gene dosage Gene expression Gene sequencing Genes Genetics Genomes Humans Infant LRRK2 protein Male Medical research Mesencephalon Middle Aged Molecular chains Molecular modelling Movement disorders Mutation Neurodegenerative diseases Neurology Neurosciences Oxidative stress PARK7 protein Parkin protein Parkinson Disease - genetics Parkinson's disease Patients Populations Proteins PTEN-induced putative kinase Saudi Arabia Screening |
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Title | Parkinson's Disease in Saudi Patients: A Genetic Study |
URI | https://www.ncbi.nlm.nih.gov/pubmed/26274610 https://www.proquest.com/docview/1704062985/abstract/ https://search.proquest.com/docview/1705010667 https://pubmed.ncbi.nlm.nih.gov/PMC4537238 https://doaj.org/article/f62aea7f0947470ea1bff78fbff8926b http://dx.doi.org/10.1371/journal.pone.0135950 |
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