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...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4537238?pdf=render |
| _version_ | 1811338295117873152 |
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| author | Bashayer R Al-Mubarak Saeed A Bohlega Thamer S Alkhairallah Amna I Magrashi Maha I AlTurki Dania S Khalil Basma S AlAbdulaziz Hussam Abou Al-Shaar Abeer E Mustafa Eman A Alyemni Bashayer A Alsaffar Asma I Tahir Nada A Al Tassan |
| author_facet | Bashayer R Al-Mubarak Saeed A Bohlega Thamer S Alkhairallah Amna I Magrashi Maha I AlTurki Dania S Khalil Basma S AlAbdulaziz Hussam Abou Al-Shaar Abeer E Mustafa Eman A Alyemni Bashayer A Alsaffar Asma I Tahir Nada A Al Tassan |
| author_sort | Bashayer R Al-Mubarak |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T18:08:37Z |
| format | Article |
| id | doaj.art-f62aea7f0947470ea1bff78fbff8926b |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-13T18:08:37Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-f62aea7f0947470ea1bff78fbff8926b2022-12-22T02:35:59ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01108e013595010.1371/journal.pone.0135950Parkinson's Disease in Saudi Patients: A Genetic Study.Bashayer R Al-MubarakSaeed A BohlegaThamer S AlkhairallahAmna I MagrashiMaha I AlTurkiDania S KhalilBasma S AlAbdulazizHussam Abou Al-ShaarAbeer E MustafaEman A AlyemniBashayer A AlsaffarAsma I TahirNada A Al TassanParkinson'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.http://europepmc.org/articles/PMC4537238?pdf=render |
| spellingShingle | Bashayer R Al-Mubarak Saeed A Bohlega Thamer S Alkhairallah Amna I Magrashi Maha I AlTurki Dania S Khalil Basma S AlAbdulaziz Hussam Abou Al-Shaar Abeer E Mustafa Eman A Alyemni Bashayer A Alsaffar Asma I Tahir Nada A Al Tassan Parkinson's Disease in Saudi Patients: A Genetic Study. PLoS ONE |
| title | Parkinson's Disease in Saudi Patients: A Genetic Study. |
| title_full | Parkinson's Disease in Saudi Patients: A Genetic Study. |
| title_fullStr | Parkinson's Disease in Saudi Patients: A Genetic Study. |
| title_full_unstemmed | Parkinson's Disease in Saudi Patients: A Genetic Study. |
| title_short | Parkinson's Disease in Saudi Patients: A Genetic Study. |
| title_sort | parkinson s disease in saudi patients a genetic study |
| url | http://europepmc.org/articles/PMC4537238?pdf=render |
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