Comparison of studies investigating miRNAs from blood samples (serum or plasma) of patients with FTD and/or ALS
| Freischmidt et al 2014*11 | Sheinerman et al 2017†17 | Piscopo et al 2018†18 | Grasso et al 2019†19 | Magen et al 2020†20 | This study† | |
| Disease | ALS | FTD, ALS | FTD | FTD | FTD, ALS | FTD, ALS |
| Cohort | Separate sporadic/genetic‡ | Not mentioned | Sporadic | Sporadic | Mixed sporadic/genetic§ | C9orf72 |
| Patients, n= Discovery/replication | 9/13 genetic 14 sporadic | 50 FTD 50 ALS | 54 | 10/48 | 52/117 FTD 115 ALS | 22 |
| Presymptomatic carriers, n= | 18 | – | – | – | – | 45 |
| Methods of analysis | Microarrays | 37 selected miRNAs (qRT-PCR) | 9 selected miRNAs (qRT-PCR) | 752 selected miRNAs (qRT-PCR) | Large scale sequencing (RNA-seq) | Large scale sequencing (RNA-seq) |
| Major deregulated miRNAs | miR-4745-5p miR-3665 miR-1915-3p miR-4530 (validated from panel of 30 miRNAs) | miR-9/let-7e, miR-7/miR-451, miR335-5p/let-5e (FTD) miR-206/miR-338-3p, miR-9/miR-129-3p, miR-335-5p/miR-338-3p (ALS) | miR-127-3p | miR-663a miR-502-3p miR-206 | Panels of 20, 147, 121 miRNAs for each cohort | miR-34a-5p miR-345-5p miR-200c-3p miR-10a-3p |
*in serum.
†in plasma.
‡SOD1, FUS, C9orf72, PFN1.
§C9orf72, MAPT, GRN, TBK1.
ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia; miRNA, microRNA; qRT-PCR, quantitative real-time PCR; RNA-seq, RNA sequencing.