Naslov
S100 calcium-binding protein B in cerebrospinal fluid of spinal atrophy patients patients treated with nusinersen

Autori
Berečić, Ivana ; Babić, Marija ; Banović, Maria ; Španić, Ena ; Vukić, Vana ; Vogrinc, Željka ; Sertić, Jadranka ; Barišić, Nina ; Šimić, Goran

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
NeuRi Abstract Book / Kužnik Pokorn, Jona ; Krmpotić, Rea - Rijeka : Medicinski fakultet Sveučilišta u Rijeci, 2023, 42-43

Skup
12. Student Congress of Neuroscience – NeuRi 2023

Mjesto i datum
Rijeka, Hrvatska, 21.04.2023. - 23.04.2023

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
biomarker ; cerebrospinal fluid ; genetics ; motor functions ; nusinersen ; S100B protein ; spinal muscular atrophy ; therapy

Sažetak
Introduction The main goal of this study was to evaluate the effect of nusinersen treatment in patients with spinal muscular atrophy (SMA) on cerebrospinal fluid (CSF) S100 calcium-binding protein B (S100B) levels. We were also interested in determining whether CSF S100B protein is associated with genetic biomarkers of SMA, scores on the Hammersmith Functional Motor Scale Expanded (HFMSE), and The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scales for the assessment of motor functions in SMA patients, as well as type and duration of SMA. Materials and Methods The study involved Thirty SMA patients at the University Hospital Centre Zagreb. Before administering nusinersen, CSF samples were obtained from patients via lumbar puncture. Using Enzyme-Linked Immunosorbent Assay (ELISA), the CSF S100B concentration was measured. We used the CHOP-INTEND and the HFMSE instruments to evaluate motor functions in SMA patients. The Multiplex Ligation-dependent Probe Amplification (MLPA) technique was utilized for all genetic analyses. SPSS version 19.0.1 (SPSS, Chicago, Illinois, United States) was used for statistical data analysis. Due to the non-normal distribution of the data, non-parametric tests were utilized. Results The levels of CSF S100B did not change significantly in SMA patients treated with nusinersen. In addition, there was no association between S100B levels and scores on the HFMSE and CHOP-INTEND scales or genetic biomarkers of SMA (the number of copies of the NAIP gene and the number of copies of the 7th exon of the SMN2 gene). The S100B levels of patients with distinct types of SMA were identical. However, S100B levels were positively correlated with disease duration. Discussion/Conclusion S100B protein did not exhibit the characteristics of an informative biological marker for the therapeutic response of patients with SMA during nusinersen therapy, as nusinersen administration had no effect on S100B levels. Also, no association between S100B protein and SMA genetic biomarkers was established. Nonetheless, S100B values were positively correlated with disease duration.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti, Kognitivna znanost (prirodne, tehničke, biomedicina i zdravstvo, društvene i humanističke znanosti), Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)

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