Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease
| Autor: | P. León, J. Villarrubia, J. Dalmau, J.C. Bureo, M.A. Torralba, S. Olivera, R. Nuñez |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Adolescent DNA Copy Number Variations Bone disease Disease Severity of Illness Index Gastroenterology Correlation Young Adult 03 medical and health sciences 0302 clinical medicine Bone Density Gene Duplication Internal medicine Genotype medicine Humans Genetic Testing Allele Child Alleles Sequence Deletion chemistry.chemical_classification Gaucher Disease Lumbar Vertebrae business.industry Infant Organ Size General Medicine Middle Aged medicine.disease Glucosylceramidase 030104 developmental biology Enzyme chemistry Spain Child Preschool Female Bone Diseases business Glucocerebrosidase Spleen 030217 neurology & neurosurgery |
| Zdroj: | QJM-AN INTERNATIONAL JOURNAL OF MEDICINE r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname Zaguán. Repositorio Digital de la Universidad de Zaragoza |
| ISSN: | 1460-2393 1460-2725 |
| Popis: | Background : Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited. Subjects and Methods : We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A > C (T134P) , 1%; c.721G > A (G202R) , 17%; c.1090G > T (G325W) , 13.9%; c.1208G > A (S364N) , 4.1%; c.1226A > G (N370S) , 17.8%; c.1246G > A (G377S) , 17.6%; c.1289C > T (P391L) , 8.5%; c.1448T > C (L444P) , 3%; and c.1504C > T (R463C) , 24.5%. Recombinant alleles, deletion of 55 bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity. Results : The ERA showed a statistically significant correlation with chitotriosidase ( P |
| Databáze: | OpenAIRE |
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