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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, Maria Francisca
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.accessioned2019-03-25T13:55:03Z
dc.date.available2019-03-25T13:55:03Z
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.sponsorshipFCT PTDC/SAU-GMG/102889/2008; SFRH/BD/124372/2016pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6290
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.relationThe sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectSCARB2pt_PT
dc.subjectGaucher Diseasept_PT
dc.subjectParkinsonpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_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.awardTitleThe sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F102889%2F2008/PT
oaire.citation.conferencePlaceCoimbra, Portugalpt_PT
oaire.citation.title15th International Symposium, Sociedade Portuguesa de Doenças Metabólicas, 14-16 March 2019pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameCoutinho
person.givenNameMaria Francisca
person.identifier.ciencia-idE211-15A7-D371
person.identifier.orcid0000-0002-2222-3622
person.identifier.scopus-author-id56350180700
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublicationb95c8c12-245a-47fb-a746-9ef1f1a15c39
relation.isAuthorOfPublication.latestForDiscoveryb95c8c12-245a-47fb-a746-9ef1f1a15c39
relation.isProjectOfPublicationca02e964-3829-4bc8-8db9-e311af4f8d1d
relation.isProjectOfPublication.latestForDiscoveryca02e964-3829-4bc8-8db9-e311af4f8d1d

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