Instituto Nacional Of Saude Ricardo Jorge Insa

IP, Portugal

Instituto Nacional Of Saude Ricardo Jorge Insa

IP, Portugal
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Pinto E.,Instituto Nacional Of Saude Ricardo Jorge Insa | Freitas J.,Hospital Of Santo Antonio | Duarte A.J.,Instituto Nacional Of Saude Ricardo Jorge Insa | Ribeiro I.,Instituto Nacional Of Saude Ricardo Jorge Insa | And 4 more authors.
Epilepsy Research | Year: 2012

Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB. © 2011 Elsevier B.V.


Duarte A.J.,Instituto Nacional Of Saude Ricardo Jorge Insa | Ribeiro D.,Instituto Nacional Of Saude Ricardo Jorge Insa | Chaves J.,Hospital Of Santo Antonio | Amaral O.,Instituto Nacional Of Saude Ricardo Jorge Insa
Molecular Genetics and Metabolism Reports | Year: 2015

Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease. © 2015 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.


Duarte A.J.,Instituto Nacional Of Saude Ricardo Jorge Insa | Ribeiro D.,Instituto Nacional Of Saude Ricardo Jorge Insa | Amaral O.,Instituto Nacional Of Saude Ricardo Jorge Insa
Blood Cells, Molecules, and Diseases | Year: 2013

Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker.Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that focus on a specific population group.In this work we assessed the variation of CHIT1 mutations in ten normal controls and detected six missense alterations. G102S, a polymorphism with known altered catalytic properties, was the most frequent being detected in 4/10 individuals. Using allelic discrimination we tested 503 individuals, randomly sampled from the Portuguese population. Variant G102S was detected in 49.5% of the individuals and presented an allele frequency of 0.29. The results of this study showed that variability in CHIT1 gene is considerable and that G102S polymorphism presents a high frequency in the Portuguese. © 2012 Elsevier Inc.


PubMed | Instituto Nacional Of Saude Ricardo Jorge Insa
Type: Journal Article | Journal: Blood cells, molecules & diseases | Year: 2012

Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that focus on a specific population group. In this work we assessed the variation of CHIT1 mutations in ten normal controls and detected six missense alterations. G102S, a polymorphism with known altered catalytic properties, was the most frequent being detected in 4/10 individuals. Using allelic discrimination we tested 503 individuals, randomly sampled from the Portuguese population. Variant G102S was detected in 49.5% of the individuals and presented an allele frequency of 0.29. The results of this study showed that variability in CHIT1 gene is considerable and that G102S polymorphism presents a high frequency in the Portuguese.

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