| Title |
Comparative study of microRNA profiling in one Chinese Family with PSEN1 G378E mutation
|
|---|---|
| Published in |
Metabolic Brain Disease, July 2018
|
| DOI | 10.1007/s11011-018-0279-2 |
| Pubmed ID | |
| Authors |
Zhanyun Lv, Liangchen Hu, Yan Yang, Kui Zhang, Zuzhen Sun, Jing Zhang, Lipan Zhang, Yanlei Hao |
| Abstract |
MicroRNAs are not widely studied in familial Alzheimer's disease cases, whether the microRNA profilings in familial Alzheimer's disease patients are similar to the sporadic AD patients is not known. This study aims to investigate the differential expression of microRNAs (miRNAs) associated with early-onset familial Alzheimer's disease (EO-FAD) in a Chinese family. We performed the gene mutation analysis in a family clinically diagnosed of EO-FAD. Micro-arrays were used to profile the miRNAs in cerebrospinal fluid of 2 affected members, 2 unaffected carriers and 2 mutation negative controls. The clinical presentation confirmed the EO-FAD diagnosis, and a recurrent mutation of the PSEN1 p.G378E was found in the family. The result showed that in the miRNAs expression profile, a total of 166 miRNAs were up-regulated and 3 miRNAs were down-regulated in the affected individuals compared with mutation negative individuals. But after Benjamini Hochberg FDR correction, only 25 miRNAs were significantly up-regulated and no miRNA was down-regulated, the levels of miR-30a-5p, miR-4758-3p and let-7a-3p were elevated significantly. Compared with mutation negative controls, 21 miRNAs were up-regulated and 18 microRNAs were down-regulated in the unaffected mutation carriers, after Benjamini Hochberg FDR correction, miR-345-5p was up-regulated and miR-4795-3p was down-regulated in the unaffected mutation carriers. And there was no difference between the affected members and unaffected mutation carriers. GO database showed that the top biological processes affected by the predicted target genes are nucleic acid binding transcription factor activity and transcription factor activity (sequence-specific DNA binding) (GO:0001071 and GO:0003700). The result of KEGG pathways showed 64 pathways were implicated in the regulatory network. The present study identified the miRNA profiling of Chinese siblings with G378E mutation in the PSEN1. Compared with mutation negative controls, the levels of 25 miRNAs including miR-30a-5p, miR-4758-3p and let-7a-3p were elevated significantly in the affected members, miR-345-5p was up-regulated and miR-4795-3p was down-regulated in the unaffected mutation carriers. Our study showed the microRNA profilings in the cases of a EO-FAD family with PSEN1 p.G378E mutation, but because of the individuals in the family was small, the results in other types of EO-FAD still need further studied. |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 16% |
| Student > Ph. D. Student | 3 | 12% |
| Student > Doctoral Student | 2 | 8% |
| Lecturer | 2 | 8% |
| Other | 2 | 8% |
| Other | 4 | 16% |
| Unknown | 8 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 32% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 8% |
| Biochemistry, Genetics and Molecular Biology | 2 | 8% |
| Neuroscience | 2 | 8% |
| Nursing and Health Professions | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 9 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 July 2018.
All research outputs
#4,242,046
of 23,094,276 outputs
Outputs from Metabolic Brain Disease
#175
of 1,065 outputs
Outputs of similar age
#82,110
of 328,119 outputs
Outputs of similar age from Metabolic Brain Disease
#5
of 25 outputs
Altmetric has tracked 23,094,276 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,065 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.3. This one has done well, scoring higher than 77% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 328,119 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.