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Pregled bibliografske jedinice broj: 428172

Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score


Bačić Baronica, Koraljka; Mlinac, Kristina; Vladić, Anton; Kalanj Bognar, Svjetlana
Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score // The third Croatian Congress of Neuroscience : Abstract Book / Croatian Society for Neuroscience and Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Croatia (ur.).
Zagreb: School of Medicine, University of Zagreb, Croatian Institute for Brain Research, 2009. str. 36-37 (poster, domaća recenzija, sažetak, znanstveni)


CROSBI ID: 428172 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score

Autori
Bačić Baronica, Koraljka ; Mlinac, Kristina ; Vladić, Anton ; Kalanj Bognar, Svjetlana

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

Izvornik
The third Croatian Congress of Neuroscience : Abstract Book / Croatian Society for Neuroscience and Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Croatia - Zagreb : School of Medicine, University of Zagreb, Croatian Institute for Brain Research, 2009, 36-37

Skup
Croatian Congress of Neuroscience (3 ; 2009)

Mjesto i datum
Zadar, Hrvatska, 24.-26.09.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
multiple sclerosis severity score; gene polymorphisms; arylsulfatase A

Sažetak
Arylsulfatase A (ASA) is lysosomal enzyme involved in catabolism of cerebroside-sulfate, major lipid constituent of oligodendrocyte membranes. Various polymorphisms in ASA gene have been described, leading to different levels of enzyme deficiency. Progressive demyelination occurs in metachromatic leukodystrophy (MLD), while the condition of ASA-pseudodeficiency (ASA-PD) is suggested to contribute to complex pathogenesis of multiple sclerosis (MS). Genotype-phenotype correlation is thus useful in estimation of disease severity and progression, and may be analyzed using recently introduced Multiple Sclerosis Severity Score (MSSS) method. We have analyzed the frequency of two most common mutations associated with ASA-PD in 56 patients with diagnosis of relapse-remitting multiple sclerosis. The presence of mutations was determined by polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). To determine whether there is a difference between disability level and/or disease progression in patients with or without mutations we have estimated disability level using Expanded disability status scale (EDSS) and disease progression using Multiple Sclerosis Severity Score for all patients. Correlation of genotypes and disease progression was analyzed by Kruskal-Wallis test (MSSS test, computer programme, version 3.0). The presence of either one or both mutations was determined in 13 patients (both mutations in 8 patients, only N350S mutation in 4 patients, while 1 patient carried only 1524+95 A-G mutation). Nine of the mutations carriers had mild disability (EDSS=0-4.0), 1 had moderate disability (EDSS=4.5-5.5), and 3 had severe disability (EDSS=6.0-10.0). Although we found no statistically significant correlation of genotypes and MSSS in the group of 56 MS patients, we have observed that only 3 MS patients who were mutation carriers showed MSSS values lower than 5.000 while in other MS patients-mutation carriers the MSSS value ranged from 5.267 to 9.453. Since MSSS method takes into account disability as well as the duration of the disease it is more appropriate indicator of disease progression than EDSS which presents only the disability level. MSSS is a powerful method for comparing disease progression in different groups of patients and is proven to be useful for identifying factors that may influence disease progression such as the presence of gene polymorphisms.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
108-1081870-1877 - Uloga membranskih lipida u moždanom razvitku, starenju i neurodegeneraciji (Svjetlana Kalanj-Bognar, )

Ustanove
Medicinski fakultet, Zagreb

Citiraj ovu publikaciju

Bačić Baronica, Koraljka; Mlinac, Kristina; Vladić, Anton; Kalanj Bognar, Svjetlana
Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score // The third Croatian Congress of Neuroscience : Abstract Book / Croatian Society for Neuroscience and Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Croatia (ur.).
Zagreb: School of Medicine, University of Zagreb, Croatian Institute for Brain Research, 2009. str. 36-37 (poster, domaća recenzija, sažetak, znanstveni)
Bačić Baronica, K., Mlinac, K., Vladić, A. & Kalanj Bognar, S. (2009) Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score. U: Croatian Society for Neuroscience and Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Croatia (ur.)The third Croatian Congress of Neuroscience : Abstract Book.
@article{article, year = {2009}, pages = {36-37}, keywords = {multiple sclerosis severity score, gene polymorphisms, arylsulfatase A}, title = {Gene polymorphisms of arylsulfatase A in relapse remitting multiple sclerosis : genotype-phenotype correlation and estimation of disease progression using multiple sclerosis severity score}, keyword = {multiple sclerosis severity score, gene polymorphisms, arylsulfatase A}, publisher = {School of Medicine, University of Zagreb, Croatian Institute for Brain Research}, publisherplace = {Zadar, Hrvatska} }




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