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Transcripts as modifiers of phenotypic variability in hereditary transthyretin-mediated amyloidosis biopsies

2022-11-28Master thesis Open access
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dc.contributor.advisorFerreira, Miguel Alves
dc.contributor.advisorCirnes, Luís
dc.contributor.advisorGranja, Sara
dc.contributor.authorGouveia, Ana Maria Furtado
dc.date.accessioned2023-01-23T09:43:51Z
dc.date.available2023-01-23T09:43:51Z
dc.date.issued2022-11-28
dc.description.abstractHerditary transthyretin-mediated amyloidosis (ATTRv) is a severe disease, dominat, autosomal amyloidois characterized by a progressive polyneuropathy, due to a point mutation in TTR gene, causing the deposition of amyloid fibrils in peripheric nerves. Due to wide variability in age-at-onset (AO), two main groups were stablished, early-onset (AO˂50 years) and late-onset (AO≥50 years). The main goal of this project was the analysis of RNA transcripts theta could act as modifiers of phenotypic variablility in ATTRv patient biopsies. Therefore, it was stablished wo main steps: (A) extraction and quantification of RNA from paraffin biopsies and (B) analysis of RNA transcripts that will allow to explain phenotypic variability in ATTRv. Five differentially expressed genes were identified in salivar gland samples. MGAM2 gene stood out between the other four genes due to its higher expression in the early AO group. This gene may be associated with the inhibition of a protectice factor that was not identified yet. Overall, our study may be a precursor to future exploration of proein-protein interactions, as well as the SNPs detection in differentially expressed genes that may modulate the phenotypic variability in ATTRv.pt_PT
dc.identifier.tid203154258pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.22/21749
dc.language.isoengpt_PT
dc.subjectHereditary transthyretin-mediated amyloidosispt_PT
dc.subjectTransthyretinpt_PT
dc.subjectRNA transcriptspt_PT
dc.subjectModifiers of phenotypic variabilitypt_PT
dc.titleTranscripts as modifiers of phenotypic variability in hereditary transthyretin-mediated amyloidosis biopsiespt_PT
dc.typemaster thesis
dspace.entity.typePublication
rcaap.rightsopenAccesspt_PT
rcaap.typemasterThesispt_PT
thesis.degree.nameTécnicas Laboratoriais em Biopatologiapt_PT

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