Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy

Scientific paper - Original scientific paper

• Author: Marija Babić
• Author: Maria Banović
• Author: Ivana Berečić
• Author: Tea Banić
• Author: Mirjana Babić Leko
• Author: Monika Ulamec
• Author: Alisa Junaković
• Author: Janja Kopić
• Author: Jadranka Sertić
• Author: Nina Barišić
• Author: Goran Šimić
• Author's institution: University of Zagreb; School of Medicine; (Croatian Institiute for Brain Research)
• Author's institution: University of Zagreb; School of Medicine; (Department of Pathology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Pediatrics)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Neuroscience
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pathology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract (english)

Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene has the SMN2 gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as SMN2 pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients’ body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).

• Keywords (english): nusinersen; pharmacological biomarkers; prognosis; spinal muscular atrophy; survival motor neuron 1 protein
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Journal of Clinical Medicine
• Numbering: vol. 12, no. 15, 5060
• e-ISSN: 2077-0383
• DOI: https://doi.org/10.3390/jcm12155060
• URN:NBN: urn:nbn:hr:105:001529
• Publication: 2023-08-01
• Project: Number: IP-2019-04-3584; Title (croatian): Uloga krvno-moždane barijere, urođene imunosti i oligomerizacije tau proteina u patogenezi Alzheimerove bolesti; Title (english): Role of blood-brain barrier, innate immunity, and tau protein oligomerization in the pathogenesis of Alzheimer's disease; Acronym: ALZ-BBB-INNATETAU; Leader: Goran Šimić; Jurisdiction: Croatia; Funding stream: Research Projects
• Project: Number: KK.01.1.1.01.0007; Title (croatian): Znanstveni centar izvrsnosti - eksperimentalna i klinička istraživanja hipoksijsko-ishemijskog oštećenja mozga u perinatalnoj i odrasloj dobi; Title (english): Scientific center of excellence - Experimental and clinical research of hypoxic-ischemic brain damage in perinatal and adulthood; Acronym: ZCI-NEURO; Leader: Miloš Judaš; Jurisdiction: eu; Funding stream: European Regional Development Fund
• Document URL: https://www.mdpi.com/2077-0383/12/15/5060
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-09-02 08:03:27