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Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?

2017-09-18Journal article Restricted access
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dc.contributor.authorAmaral, Olga
dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorOliveira, Pedro
dc.date.accessioned2017-11-10T16:34:28Z
dc.date.available2018-05-01T00:30:13Z
dc.date.issued2017-09-18
dc.descriptionNote: Where it´s written 178C it shoud be read 178H. The authors requested that correction but this particular revision was never included.
dc.description.abstractBackground: The ascertainment of mutation frequencies in the general population may have impact on the population’s wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. Aim of the Study: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). Methods. The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence. The anonymous samples used in this study were representative of the whole population; mutations were tested by PCR based methods, positive results were further confirmed. The diseases studied were Mucopolysaccharidosis type I (Hurler, MIM 607014), Tay Sachs disease variant B1 (TS, MIM 272800) and Metachromatic Leukodystrophy (MLD, MIM 250100); the mutations were, respectively, p.W402X, p.R178C and c.465þ1GOA. Results and Conclusion: Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465þ1GO A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. Carrier screening in target populations may provide the foundations for more effective approaches to precision medicine.pt_PT
dc.description.sponsorshipThis work was financially supported by National Funds through FCT—Fundação para a Ciência e a Tecnologia (MCTES—Portugal) under Project ‘‘PIC/IC/82822/2007’’ and ‘‘PTDC/BIM-MEC/4762/2014’’. AJD was grant recipient under ‘‘PIC/IC/82822/2007’ and ‘‘PTDC/ BIM-MEC/4762/2014’’; DR was grant recipient under ‘‘PIC/IC/82822/2007".pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationArch Med Res. 2017 Apr;48(3):263-269. doi: 10.1016/j.arcmed.2017.04.001. Epub 2017 Set 18.pt_PT
dc.identifier.doi10.1016/j.arcmed.2017.04.001pt_PT
dc.identifier.issn0188-4409
dc.identifier.urihttp://hdl.handle.net/10400.18/4833
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/ Instituto Mexicano del Seguro Social (IMSS)pt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0188440917301121?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectLysosomal Diseasespt_PT
dc.subjectAllelic Frequencypt_PT
dc.subjectMucopolysacharidosis type Ipt_PT
dc.subjectMetachromatic Leukodystrophypt_PT
dc.subjectPromising Therapeutic Approachespt_PT
dc.subjectTay Sachs Variant B1pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_PT
dc.titleMutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.endPage262pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage256pt_PT
oaire.citation.titleArchives of Medical Researchpt_PT
oaire.citation.volume48pt_PT
oaire.fundingStream5646-ICCMS
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationb8dae1fe-2a52-46cc-9d8c-951a08bfa219
relation.isProjectOfPublication9452b84c-9691-47bb-82ba-75ed40cdfa04
relation.isProjectOfPublication.latestForDiscovery9452b84c-9691-47bb-82ba-75ed40cdfa04

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