Naslov
Change of total tau protein in cerebrospinal fluid of patients with spinal muscular atrophy after nusinersen treatment

Autori
Babić, Marija ; Banović, Maria ; Berečić, Ivana ; 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, 39-40

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
cerebrospinal fluid ; genetics ; motor functions ; nusinersen ; spinal muscular atrophy ; tau protein ; therapy

Sažetak
Introduction The purpose of this study was to examine the effect of nusinersen treatment on the concentration of total tau (t-tau) protein in cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA). SMA is an autosomal recessive disorder characterized by degeneration of the spinal cord anterior horn motoneurons, which is caused by homozygous deletion or mutation of the survival motor neuron 1 (SMN 1) gene. We also analyzed the association between CSF t-tau and genetic biomarkers of SMA (the number of copies of the 7th exon of the SMN2 gene and the number of copies of the NAIP gene), scores on measures for assessing motor functions, duration and type of SMA. Materials and Methods 30 patients with SMA types 1, 2, and 3 who were treated at the University Hospital Centre in Zagreb participated in the study. T-tau concentration in CSF was determined using Enzyme-Linked Immunosorbent Assay (ELISA) from lumbar puncture samples of CSF. Their motor function was measured using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale Expanded (HFMSE). Using the Multiplex ligation-dependent probe amplification technique (MLPA), genetic analyses were conducted. SPSS version 19.0.1 was utilized for statistical data analysis (SPSS, Chicago, IL, USA). Results After treatment with nusinersen, CSF t-tau levels decreased significantly. There were no statistically significant differences in CSF t-tau levels between SMA patients with various genetic biomarkers. In addition, there was no correlation between t-tau levels and scores on the COOP-INTEND and HFMSE scales. There was no association between CSF t-tau and SMA duration or subtype. Discussion/Conclusion CSF t-tau protein proved to be a prognostic and theragnostic biological marker of a successful response in patients with SMA, as its average values decreased in a statistically significant manner following administration of nusinersen. However, t-tau did not correlate with genetic biomarkers of SMA, motor function assessment scale scores, disease duration, or disease type.

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)

Napomena
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