Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; Españ

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel

Spoilage yeasts in Patagonian winemaking: molecular and physiological features of Pichia guilliermondii indigenous isolates Levaduras contaminantes en vinos patagónicos: características moleculares y fisiológicas de los aislamientos indígenas de Picchia guilliermondii

Yeasts belonging to the genus Dekkera/Brettanomyces, especially the species Dekkera bruxellensis, have long been associated with the production of volatile phenols responsible for off-flavour in wines. According to recent reports, the species Pichia guilliermondii could also produce these compounds at the initial stages of fermentation. Based on the abundance of P. guilliermondii in Patagonian winemaking, we decided to study the relevance of indigenous isolates belonging to this species as wine spoilage yeast. Twenty-three indigenous isolates obtained from grape surfaces and red wine musts were analyzed in their capacity to produce volatile phenols on grape must. The relationship between molecular Random Amplified Polymorphic DNA (RAPD) and physiological (killer biotype) patterns detected in indigenous populations of P. guilliermondii and volatile phenol production was also evaluated. Different production levels of 4-ethylphenol, 4-vinylguaiacol and 4-ethylguaiacol were detected among the isolates; however, the values were always lower than those produced by the D. bruxellensis reference strain in the same conditions. High levels of 4-vinylphenol were detected among P. guilliermondii indigenous isolates. The combined use of RAPD and killer biotype allowed us to identify the isolates producing the highest volatile phenol levels.<br>Las levaduras del género Dekkera/Brettanomyces, sobre todo la especie Dekkera bruxellensis, siempre han sido asociadas con la producción de fenoles volátiles responsables de aromas desagradables en los vinos. Recientemente, se ha demostrado que la especie Pichia guilliermondii también es capaz de producir estos compuestos, particularmente durante las etapas iniciales de la fermentación. Dada la abundancia de P. guilliermondii en las bodegas de la Patagonia, se decidió evaluar la importancia de algunos aislamientos indígenas de esta especie como levaduras alterantes de vinos regionales. Se evaluó la capacidad de producir fenoles volátiles en ensayos sobre mosto de 23 aislamientos de P. guilliermondii provenientes de superficie de uvas y de mostos de fermentación de vinos tintos. Asimismo, se analizó la relación entre los patrones moleculares (RAPD) y fisiológicos (biotipo killer) de estos aislamientos y la producción de fenoles volátiles. Se detectaron diferentes niveles de producción de 4-etilfenol, 4-vinilguayacol y 4-etilguayacol entre los aislamientos de P. guilliermondii analizados; sin embargo, los valores obtenidos fueron en todos los casos inferiores a los producidos por D. bruxellensis cepa de referencia en las mismas condiciones. En general, se detectaron altos niveles de 4-vinilfenol en los mostos fermentados con los aislamientos indígenas de P. guilliermondii. El uso combinado de RAPD-PCR y el biotipo killer permitió identificar los aislamientos que producen los niveles más altos de fenoles volátiles

Alimentos Funcionales de diseño con incorporación de paredes de levaduras vínicas como prebióticos

Se diseñó alimentos funcionales utilizando materias primas regionales: aderezos tipo mayonesa y salsa de tomate adicionados con paredes de levaduras vínicas autolisadas como prebióticos. Se evaluaron cambios en pH, recuento microbiológico, actividad emulsionante y estabilidad emulsionante. Se realizó evaluación sensorial de los productos obtenidos. Se alcanzó baja estabilidad de emulsión, pH cercano a 4,5, sin cambios en los recuentos microbianos. No hubo preferencia pronunciada hacia alguna de las formulaciones diseñadas. El aderezo tipo mayonesa con sabor más ácido y salado no resultó elegido. Se observó más consistencia en la salsa de tomate. Se concluye que es posible diseñar alimentos que contengan paredes de levaduras vínicas autolisadas como prebiótico, siempre y cuando se ajusten algunos parámetros como velocidad de agitación durante la elaboración de los aderezos tipo mayonesa y pH para ambos productos.Fil: Cabeza, Maria Silvina. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Flores, C. A.. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; ArgentinaFil: Morant, M. A.. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; ArgentinaFil: Evangelista, S. M.. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; ArgentinaFil: Herrera, C. A.. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; ArgentinaFil: Sangorrin, Marcela Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigación y Desarrollo en Ingeniería de Procesos, Biotecnología y Energías Alternativas. Universidad Nacional del Comahue. Instituto de Investigación y Desarrollo en Ingeniería de Procesos, Biotecnología y Energías Alternativas; ArgentinaFil: Ordoñez, A. L.. Universidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industria; ArgentinaX Encuentro de Investigadores y Docentes de IngenieríaSan RafaelArgentinaUniversidad Tecnológica Nacional. Facultad Regional San RafaelUniversidad Nacional de Cuyo. Facultad de IngenieríaUniversidad de Mendoza. Facultad de IngenieríaUniversidad Juan Agustín Maza. Facultad de IngenieríaUniversidad Nacional de Cuyo. Facultad de Ciencias Aplicadas a la Industri

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel