Long non-coding RNAs (lncRNA) play critical roles in pathogenesis of neurodegenerative diseases. Human plasma carries lncRNAs that are stable in the blood, and their disease-specific profile have made them valuable biomarkers for some diseases. This study reports screening of the plasma levels of 90 lncRNAs in patients with Alzheimer disease (AD) to find out plasma-based AD biomarkers. Total RNA was isolated from plasma samples of 50 AD and 50 matched healthy controls. The plasma samples of 10 advanced AD patients and 10 matched healthy controls were screened for expression levels of 90 lncRNAs using Human LncRNA Profiler qPCR Array Kit (SBI). Based on the profiling results, lncRNAs BC200, NDM29, NEAT1, FAS-AS1 and GAS5-AS1 were selected for further analysis in all samples and their biomarker potency was evaluated by ROC curve analysis. We further surveyed RNAseq data by in silico analysis. We found that the NEAT1 and BC200 levels in the plasma of the AD patients were significantly higher compared with the control group (P=0.0021, p= 0.02, respectively). ROC curve analysis showed that the plasma level of NEAT1 and BC200 discriminated AD patients from healthy controls with sensitivity of 72 % and 60 %, and specificity of 84 % and 91 % respectively. Moreover, NEAT1 discriminated MCI (60 % sensitivity and 91 % specificity) and advanced-AD patients from healthy controls (73 % sensitivity and 71 % specificity). Besides, plasma level of BC200 discriminated the pre-clinical subjects from healthy controls with 83 % sensitivity and 66 % specificity. A positive correlation was also observed between plasma levels of BC200 with the age patients (r = 0.34, p=0.02). In silico RNAseq data analysis showed that a total of 33 lncRNAs were up-regulated but 13 lncRNAs were down-regulated significantly in AD patients compared with the healthy controls. In conclusion, this study elucidated that the plasma levels of lncRNAs NEAT1 and BC200 might be considered as potential blood-based biomarkers for AD development and progression.
Background and Aim: Alzheimer's disease is the most common cause of dementia in old people. AD is a progressive and irreversible neurodegenerative brain disorder. Sortilin receptor 1 (SORL1) is involved in cellular trafficking of amyloid precursor protein and plays an essential role in amyloid-beta peptide generation in the AD. The purpose of the present study was to evaluate the association of SORL1 rs2282649 and rs12285364 polymorphism with AD in Azeri population in the northwest of Iran. Materials and Methods: This case-control study included 100 Alzheimer's disease patients as our case and 83 healthy subjects as our control group. Genotypes were determined by (PCR-RFLP) technique. Results: In rs2282649 SNP the frequency of homozygous CC genotype was 36% in the case and 38.55% % in the control groups (P= 0.70). The frequencies of TT genotype were 12% and 7.23% in the case and control groups respectively (P = 0.25). The frequency of heterozygote CT genotype was 52% in the cases and 54.22% in the control group (P = 0.75). Also, in rs12285364 polymorphism the frequencies of homozygous CC genotype in the cases and the control groups were 93% and 90.36 % respectively (P= 0.5). The frequency of TT genotype was 0% in both case and control groups (P = 0.00). The frequencies of heterozygote CT genotype were 7% in the case and 9.64% in the control groups (P = 0.49). Conclusion:No statistically significant difference was observed between the case and control groups in regard to the frequencies of the genotypes. Therefore we can conclude that these polymorphisms are not associated with Alzheimer's disease among the people in the northwest of Iran.
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