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SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?

2019-03-15Conference object Open access
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dc.contributor.authorCoutinho, M.F.
dc.contributor.authorLacerda, L.
dc.contributor.authorGaspar, A.
dc.contributor.authorPinto, E.
dc.contributor.authorRibeiro, I.
dc.contributor.authorLaranjeira, F.
dc.contributor.authorRibeiro, H.
dc.contributor.authorSilva, E.
dc.contributor.authorFerreira, C.
dc.contributor.authorPrata, M.J.
dc.contributor.authorAlves, S.
dc.date.accessioned2020-06-19T14:58:13Z
dc.date.available2020-06-19T14:58:13Z
dc.date.issued2019-03-15
dc.description.abstractUnlike most lysosomal proteins, β-glucocerebrosidase (GCase), the hydrolase defective in Gaucher disease (GD), is delivered to lysosomes through its interaction with the transmembrane protein LIMP2. A few years ago, mutations in its coding gene, SCARB2, were reported to modify the severity of GD phenotype. The existence of a great variety of GD phenotypes is well-known, with numerous patients who carry identical genotypes presenting remarkable phenotypic variability. Over the years, that variability has been attributed to other genetic, epigenetic and/or environmental factors. Still, there is still much to learn on this subject. Recently, an association between Parkinson's disease (PD) and the presence of mutations in the GBA gene has been demonstrated. Moreover, there are also studies suggesting that genetic variants in the SCARB2 gene may also be risk factors for PD. We analysed the SCARB2 gene in the Portuguese cohort of 91 GD patients, having identified 3 different SCARB2 coding variants. Of those, 2 were known polymorphisms with high prevalence in the normal population (p.M159V and p.V396I) and the third was a novel coding variant, p.T398M, present in heterozigousity in a single patient. Our study demonstrated that, at least for the Portuguese population, genetic variability at SCARB2 does not account much to the GD phenotypic spectrum. Nevertheless, in vitro analyses of the novel p.T398M are envisaged, in order to further characterize the effect of this variant on the levels and sub-cellular location of GCase. The clinical presentation of the patient harbouring this coding variant will also be discussed.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6991
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectGaucher Diseasept_PT
dc.subjectSCARB2pt_PT
dc.subjectGene Mutationspt_PT
dc.subjectLysosomal Storage Disorderpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectDoença de Gaucherpt_PT
dc.subjectDoenças Lisossomais de Sobrecargapt_PT
dc.subjectGenes Modificadorespt_PT
dc.titleSCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?pt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceCoimbra, Portugalpt_PT
oaire.citation.title15th International Symposium SPDM, Sociedade Portuguesa de Doenças Metabólicas, 14 mar-16 mar 2019pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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