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Parkinson's Disease in Saudi Patients: A Genetic Study.
PLoS One. 2015; 10(8):e0135950.Plos

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.

Authors+Show Affiliations

Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.King Abdulaziz City for Science and Technology, Kingdom of Saudi Arabia, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Behavioral Genetics unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Pub Type(s)

Clinical Trial
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26274610

Citation

Al-Mubarak, Bashayer R., et al. "Parkinson's Disease in Saudi Patients: a Genetic Study." PloS One, vol. 10, no. 8, 2015, pp. e0135950.
Al-Mubarak BR, Bohlega SA, Alkhairallah TS, et al. Parkinson's Disease in Saudi Patients: A Genetic Study. PLoS One. 2015;10(8):e0135950.
Al-Mubarak, B. R., Bohlega, S. A., Alkhairallah, T. S., Magrashi, A. I., AlTurki, M. I., Khalil, D. S., AlAbdulaziz, B. S., Abou Al-Shaar, H., Mustafa, A. E., Alyemni, E. A., Alsaffar, B. A., Tahir, A. I., & Al Tassan, N. A. (2015). Parkinson's Disease in Saudi Patients: A Genetic Study. PloS One, 10(8), e0135950. https://doi.org/10.1371/journal.pone.0135950
Al-Mubarak BR, et al. Parkinson's Disease in Saudi Patients: a Genetic Study. PLoS One. 2015;10(8):e0135950. PubMed PMID: 26274610.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Parkinson's Disease in Saudi Patients: A Genetic Study. AU - Al-Mubarak,Bashayer R, AU - Bohlega,Saeed A, AU - Alkhairallah,Thamer S, AU - Magrashi,Amna I, AU - AlTurki,Maha I, AU - Khalil,Dania S, AU - AlAbdulaziz,Basma S, AU - Abou Al-Shaar,Hussam, AU - Mustafa,Abeer E, AU - Alyemni,Eman A, AU - Alsaffar,Bashayer A, AU - Tahir,Asma I, AU - Al Tassan,Nada A, Y1 - 2015/08/14/ PY - 2015/06/22/received PY - 2015/07/29/accepted PY - 2015/8/15/entrez PY - 2015/8/15/pubmed PY - 2016/5/7/medline SP - e0135950 EP - e0135950 JF - PloS one JO - PLoS One VL - 10 IS - 8 N2 - 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. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/26274610/Parkinson's_Disease_in_Saudi_Patients:_A_Genetic_Study_ L2 - https://dx.plos.org/10.1371/journal.pone.0135950 DB - PRIME DP - Unbound Medicine ER -