Maria Liguori
STAFF
Project
Molecular Biomarkers in SMA
Un approccio multidisciplinare per la ricerca di biomarcatori molecolari orientati alla valutazione del profilo rischio/beneficio nel trattamento dell’Atrofia Muscolare Spinale.
Name
Un approccio multidisciplinare per la ricerca di biomarcatori molecolari orientati alla valutazione del profilo rischio/beneficio nel trattamento dell’Atrofia Muscolare Spinale.
Acronym
Molecular Biomarkers in SMA
Location
Bari
Start Date
2020
End Date
2023
Funder
Apulian Regional Council (D.U.P. n.246/2019, D.D. n. 3 of 13 January 2021) with funds deriving from withholdings on the regional annual salaries of former Councilors (art. 6 of the Regional Law of 14 April 2018, n. 15) and from an autonomous budget.
Partners
U.O.C. Clinica Neurologica, Centro Regionale di riferimento per le malattie rare, Azienda Ospedaliero-Universitaria, Policlinico d Bari
Spinal muscular atrophy (SMA) is a rare degenerative disorder with loss of motor neurons caused by mutations in the SMN1 gene. Nusinersen, an antisense oligonucleotide, was approved for SMA treatment to compensate the deficit of the encoded protein SMN by modulating the pre–mRNA splicing of SMN2, the centromeric homologous of SMN1, thus inducing the production of a greater amount of biologically active protein. This project was an early 10-month transcriptomics investigation in 10 adult SMA who received nusinersen to search for early genetic markers for clinical monitoring. By comparing their profiles with age-matched healthy controls (HC), we also analyzed the changes in miRNA/mRNAs expression and miRNA-target gene interactions possibly associated with SMA. A multidisciplinary approach of HT-NGS followed by bioinformatics/biostatistics analysis was applied.
