Study of cognitive impairment and genetic polymorphism of SLC41A1 (rs11240569 allele) in Parkinson’s disease in Upper Egypt: case-control study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery

Heba Mohamed Saad Eldien¹  Ashraf Khodaery²  Sherif A. Sayed²  Tahia H. Saleem³  Wafaa M. Farghaly⁴  Hamdy N. El-Tallawy⁴  Hassan Mohammed Elnady⁵  Ahmed A. Helaly⁵ 

[1] Department of Anatomy, College of Medicine, Jouf University, Skaka, Kingdom of Saudi Arabia;Histology and Cell Biology, Tissue Culture and Molecular Biology Center, Faculty of Medicine, Assiut University, Assiut, Egypt;Department of Clinical Pathology, Faculty of Medicine, Sohag University, Sohag, Egypt;Department of Medical Biochemistry, Faculty of Medicine, Assiut University, Assiut, Egypt;Department of Neurology, Assiut University, Assiut, Egypt;Department of Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt;

关键词: Parkinson’s disease;    SLC41A1;    rs11240569;    Dementia;    Cognitive Impairment;   

DOI  :  10.1186/s41983-021-00341-0

来源: Springer

【 摘 要 】

BackgroundParkinson’s disease is one of the neurodegenerative disorders that is caused by genetic and environmental factors or interaction between them. Solute carrier family 41 member 1 within the PARK16 locus has been reported to be associated with Parkinson’s disease. Cognitive impairment is one of the non-motor symptoms that is considered a challenge in Parkinson’s disease patients. This study aimed to investigate the association of rs11240569 polymorphism; a synonymous coding variant in SLC41A1 in Parkinson’s disease patients in addition to the assessment of cognitive impairment in those patients.ResultsIn a case -control study, rs11240569 single nucleotide polymorphisms in SLC41A1, genes were genotyped in 48 Parkinson’s disease patients and 48 controls. Motor and non-motor performance in Parkinson's disease patients were assessed by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The genotype and allele frequencies were compared between the two groups and revealed no significant differences between case and control groups for rs11240569 in SLC41A1 gene with P value .523 and .54, respectively. Cognition was evaluated and showed the mean ± standard deviation (SD) of WAIS score of PD patients 80.4 ± 9.13 and the range was from 61 to 105, in addition to MMSE that showed mean ± SD 21.96 ± 3.8.ConclusionGenetic testing of the present study showed that rs11240569 polymorphism of SLC41A1 gene has no significant differences in distributions of alleles and genotypes between cases and control group, in addition to cognitive impairment that is present in a large proportion of PD patients and in addition to the strong correlation between cognitive impairment and motor and non-motor symptoms progression.

【 授权许可】

CC BY