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Aberrantly expressed hsa_circ_0060762 and CSE1L as potential peripheral blood biomarkers for ALS [Elektronski vir]Ravnik-Glavač, Metka ...Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and ... easy-to-obtain biomarkers are an absolute necessity for earlier and more accurate diagnostics. Circular RNAs (circRNAs) have already been proposed as potential biomarkers for several neurodegenerative diseases. In this study, we further investigated the usefulness of circRNAs as potential biomarkers for ALS. We first performed a microarray analysis of circRNAs on peripheral blood mononuclear cells of a subset of ALS patients and controls. Among the differently expressed circRNA by microarray analysis, we selected only the ones with a host gene that harbors the highest level of conservation and genetic constraints. This selection was based on the hypothesis that genes under selective pressure and genetic constraints could have a major role in determining a trait or disease. Then we performed a linear regression between ALS cases and controls using each circRNA as a predictor variable. With a False Discovery Rate (FDR) threshold of 0.1, only six circRNAs passed the filtering and only one of them remained statistically significant after Bonferroni correction: hsa_circ_0060762 and its host gene CSE1L. Finally, we observed a significant difference in expression levels between larger sets of patients and healthy controls for both hsa_circ_0060762 and CSE1L. CSE1L is a member of the importin β family and mediates inhibition of TDP-43 aggregation; the central pathogenicity in ALS and hsa_circ_0060762 has binding sites for several miRNAs that have been already proposed as biomarkers for ALS. In addition, receiver operating characteristics curve analysis showed diagnostic potential for CSE1L and hsa_circ_0060762. Hsa_circ_0060762 and CSE1L thus represent novel potential peripheral blood biomarkers and therapeutic targets for ALS.Vir: Biomedicines [Elektronski vir]. - ISSN 2227-9059 (Vol. 11, iss. 5, art. 1316, May 2023, str. [1]-10)Vrsta gradiva - e-članek ; neleposlovje za odrasleLeto - 2023Jezik - angleškiCOBISS.SI-ID - 160876291
Avtor
Ravnik-Glavač, Metka |
Mezzavilla, Massimo |
Dolinar, Ana, genetika |
Koritnik, Blaž, 1973- |
Glavač, Damjan
Teme
amiotrofična lateralna skleroza |
ALS |
circRNA |
biomarker |
biomedicina |
amyotrophic lateral sclerosis |
ALS |
circRNA |
biomarker |
peripheral blood biomarker |
hsa_circ_0060762 |
CSE1L |
biomedicine
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Avtor | Ravnik-Glavač, Metka ... |
Naslov | Aberrantly expressed hsa_circ_0060762 and CSE1L as potential peripheral blood biomarkers for ALS [Elektronski vir] |
Datum objave | 2023-04-28 |
COBISS.SI-ID | 160876291 |
Verzija objave v repozitoriju | Založnikova različica |
Licenca objave v repozitoriju | Creative Commons Priznanje avtorstva 4.0 Mednarodna |
Embargo | Takojšnja javna objava |
Projekti, iz katerih je bila financirana objava
Naziv | Akronim | Številka projekta | Financer |
---|---|---|---|
Patologija in molekularna genetika | P3-0054-2020 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
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Fiziološki mehanizmi nevroloških motenj in bolezni | P3-0338-2020 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
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Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku | P1-0170-2018 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Ravnik-Glavač, Metka | 01502 |
Mezzavilla, Massimo | ![]() |
Dolinar, Ana, genetika | 39127 |
Koritnik, Blaž, 1973- | 21239 |
Glavač, Damjan | 09275 |
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