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4. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

Author

Mensa-Vilaró, Anna, Bravo García-Morato, María, de la Calle-Martin, Oscar, Franco-Jarava, Clara, Martínez-Saavedra, María Teresa, González-Granado, Luis I., González-Roca, Eva, Fuster, Jose Luis, Alsina, Laia, Mutchinick, Osvaldo M., Balderrama-Rodríguez, Angélica, Ramos, Eduardo, Modesto, Consuelo, Mesa-del-Castillo, Pablo, Ortego-Centeno, Norberto, Clemente, Daniel, Souto, Alejandro, Palmou, Natalia, Remesal, Agustín, Leslie, Kieron S., Gómez de la Fuente, Enrique, Yadira Bravo Gallego, Luz, Campistol, Josep María, Dhouib, Naouel Guirat, Bejaoui, Mohamed, Dutra, Lívia Almeida, Terreri, Maria Teresa, Mosquera, Catalina, González, Tatiana, Cañellas, Jerónima, García-Ruiz de Morales, José María, Wouters, Carine H., Bosque, María Teresa, Cham, Weng Tarng, Jiménez-Treviño, Santiago, de Inocencio, Jaime, Bloomfield, Markéta, Pérez de Diego, Rebeca, Martínez-Pomar, Natalia, Rodríguez-Pena, Rebeca, González-Santesteban, Cecilia, Soler-Palacín, Pere, Casals, Ferran, Yagüe, Jordi, Allende, Luis M., Rodríguez-Gallego, José Carlos, Colobran, Roger, Martínez-Martínez, Laura, López-Granados, Eduardo, and Aróstegui, Juan I.

Published
2019
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5. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Author

Rabionet, Raquel, Remesal, Agustín, Mensa-Vilaró, Anna, Murías, Sara, Alcobendas, Rosa, González-Roca, Eva, Ruiz-Ortiz, Estibaliz, Antón, Jordi, Iglesias, Estibaliz, Modesto, Consuelo, Comas, David, Puig, Anna, Drechsel, Oliver, Ossowski, Stephan, Yagüe, Jordi, Merino, Rosa, Estivill, Xavier, and Arostegui, Juan I.

Published
2019
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7. Chilblains outbreak during COVID ‐19 pandemic: A Type‐I interferonopathy?

Author

Mensa‐Vilaró, Anna, primary, Vicente, Asunción, additional, Español‐Rego, Marta, additional, Antón, Jordi, additional, Fabregat, Virginia, additional, Fortuny, Claudia, additional, González, Europa Azucena, additional, Fumadó, Victoria, additional, González‐Roca, Eva, additional, Jou, Cristina, additional, Plaza, Susana, additional, Mosquera, Juan Manuel, additional, Yagüe, Jordi, additional, Prat, Carolina, additional, Pascal, Mariona, additional, Juan, Manel, additional, Arostegui, Juan I., additional, Baselga, Eulalia, additional, and Alsina, Laia, additional

Published
2022
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9. Homozygous R136S mutation in PRNP gene causes recessive inherited early onset prion disease

Author

Ximelis, Teresa, primary, Marín-Moreno, Alba, additional, Espinosa, Juan Carlos, additional, Eraña, Hasier, additional, Charco, Jorge M, additional, Hernández, Isabel, additional, Riveira, Carmen, additional, Alcolea, Daniel, additional, González-Roca, Eva, additional, Aldecoa, Iban, additional, Molina-Porcel, Laura, additional, Parchi, Piero, additional, Rossi, Marcello, additional, Castilla, Joaquín, additional, Ruiz-García, Raquel, additional, Gelpi, Ellen, additional, Torres, Juan María, additional, and Sanchez-Valle, Raquel, additional

Published
2021
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10. Similarities and differences between the immunopathogenesis of COVID-19–related pediatric multisystem inflammatory syndrome and Kawasaki disease

Author

Esteve-Sole, Ana, primary, Anton, Jordi, additional, Pino-Ramirez, Rosa Maria, additional, Sanchez-Manubens, Judith, additional, Fumadó, Victoria, additional, Fortuny, Claudia, additional, Rios-Barnes, María, additional, Sanchez-de-Toledo, Joan, additional, Girona-Alarcón, Mónica, additional, Mosquera, Juan Manuel, additional, Ricart, Silvia, additional, Launes, Cristian, additional, de Sevilla, Mariona Fernández, additional, Jou, Cristina, additional, Muñoz-Almagro, Carmen, additional, González-Roca, Eva, additional, Vergara, Andrea, additional, Carrillo, Jorge, additional, Juan, Manel, additional, Cuadras, Daniel, additional, Noguera-Julian, Antoni, additional, Jordan, Iolanda, additional, and Alsina, Laia, additional

Published
2021
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11. Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

Author

Peris, Pilar, González‐Roca, Eva, Rodríguez‐García, Sebastian C, del Mar López‐Cobo, María, Monegal, Ana, and Guañabens, Núria

Subjects
HYPOPHOSPHATASIA, ALPL, GENE MUTATIONS, BISPHOSPHONATES, CYP1A1, Original Article, Original Articles, GGPS1, ATYPICAL FEMORAL FRACTURES
Abstract

Atypical femoral fractures (AFFs) are uncommon and often related to prolonged bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue nonspecific alkaline phosphatase (ALPL). Moreover, mutations in the geranylgeranyl pyrophosphate synthase (GGPPS) gene, which can be inhibited by BPs, and in the enzyme of the cytochrome P450 superfamily (CYP1A1), related to the metabolism of several drugs, have also been associated with AFF development. Our aim was to analyze the incidence of ALPL, GGPS1, and CYP1A1 gene mutations in patients with AFFs and their clinical characteristics. Seventeen women with AAFs were included. All patients underwent Sanger sequencing of the ALPL, GGPS1, and CYP1A1 genes, analyzing the presence of mutations and polymorphisms in these genes. The clinical characteristics of the patients, previous treatments, ALP substrates (vitamin B6 and phosphoethanolamine), bone turnover markers, and bone mass were also analyzed. Three of 17 patients (17.6%) presented heterozygous mutations in the ALPL (p.Gly288Ala) or CYP1A1 (p.Arg136His, p.Val409Ile) genes. Only the patient with the ALPL mutation presented increased ALP substrates. Patients with CYP1A1 variants had glucocorticoid‐induced osteoporosis. All patients were previously treated with BPs during 85.5 ± 38 months, and nearly 50% were also treated with glucocorticoids. The AFF was bilateral in 35% of cases. In conclusion, ALPL and CYP1A1 mutations may be related to the development of AFF in patients treated with BPs. The evaluation of ALP substrates in patients with low ALPL levels allows the identification of patients with hypophosphatasia. The role of CYP1A1 mutations in AFF needs further study. © 2018 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

Published
2018

12. Somatic NOD2 mosaicism in Blau syndrome

Author

de Inocencio, Jaime, Mensa-Vilaro, Anna, Tejada-Palacios, Pilar, Enriquez-Merayo, Eugenia, González-Roca, Eva, Magri, Giuliana, Ruiz-Ortiz, Estibaliz, Cerutti, Andrea, Yagüe, Jordi, and Aróstegui, Juan I.

Published
2015
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18. Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Author

de Valles-Ibáñez, Guillem, primary, Esteve-Solé, Ana, additional, Piquer, Mònica, additional, González-Navarro, E. Azucena, additional, Hernandez-Rodriguez, Jessica, additional, Laayouni, Hafid, additional, González-Roca, Eva, additional, Plaza-Martin, Ana María, additional, Deyà-Martínez, Ángela, additional, Martín-Nalda, Andrea, additional, Martínez-Gallo, Mónica, additional, García-Prat, Marina, additional, del Pino-Molina, Lucía, additional, Cuscó, Ivón, additional, Codina-Solà, Marta, additional, Batlle-Masó, Laura, additional, Solís-Moruno, Manuel, additional, Marquès-Bonet, Tomàs, additional, Bosch, Elena, additional, López-Granados, Eduardo, additional, Aróstegui, Juan Ignacio, additional, Soler-Palacín, Pere, additional, Colobran, Roger, additional, Yagüe, Jordi, additional, Alsina, Laia, additional, Juan, Manel, additional, and Casals, Ferran, additional

Published
2018
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19. From Primary Immunodeficiency to Autoimmunity: How Extreme Situations Highlight the Main Genetic Factors Involved in Autoimmune Disease

Author

Mensa-Vilaro Anna, Deyà Angela, González-Navarro E Azucena, Esteve Ana, Ana M Plaza, Yagüe Jordi, Español Marta, Estibaliz Ruiz, Llobell Arturo, Juan I. Aróstegui, González-Roca Eva, and Alsina Laia

Subjects
0301 basic medicine, Autoimmune disease, Disease, Biology, medicine.disease, medicine.disease_cause, Acquired immune system, Immunopharmacology, Autoimmunity, 03 medical and health sciences, 030104 developmental biology, Immune system, Immunology, medicine, Primary immunodeficiency, Immunodeficiency
Abstract

Autoimmune diseases are a broad group of disorders characterized by the involvement of adaptive immunity but also the innate immunity. Genetic defects underlying autoimmunity are rare, though increasingly described, and represent excellent opportunities to get insight into the function of specific molecules. In this sense, primary immunodeficiencys are perfect examples for increasing knowledge of how the immune system works. Although most of immunodeficiencies manifest mainly susceptibility to infections, autoimmunity is probably the second group of clinical signs. Both adaptive and innate immunodeficiencies are being broadly related with autoimmune disorders. This article reviews the main aspects regarding autoimmunity learned from immunodeficiencies; from dysregulation of classical humoral and cellular immunodeficiencies to dysregulation of innate immunodeficiencies, which are associated to auto inflammatory disorders.

Published
2016

20. Enantioselective synthesis of vicinal (R,R)-diols by yeast butanediol dehydrogenase

Author

Calam, Eduard, González-Roca, Eva, Fernández, M Rosario, Dequin, Sylvie, Parés, Xavier, Virgili, Albert, Biosca, Josep A, Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona [Barcelona] (UAB), Sciences Pour l'Oenologie (SPO), Institut National de la Recherche Agronomique (INRA)-Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD [Nouvelle-Calédonie])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Department of Chemistry, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Ministry of Education and Science of Spain [BIO2007-64659 ], Generalitat de Catalunya (Government of Catalonia) [2009 SGR795], Universitat Autònoma de Barcelona (UAB), and Université Montpellier 1 (UM1)-Institut National de la Recherche Agronomique (INRA)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)

Subjects
[SDV.BV]Life Sciences [q-bio]/Vegetal Biology
Abstract

Butanediol dehydrogenase (Bdh1p) from Saccharomyces cerevisiae belongs to the superfamily of the medium chain dehydrogenases/reductases and converts reversibly R-acetoin and S-acetoin to (2R,3R)-2,3-butanediol and meso-2,3-butanediol, respectively. It is specific for NAD(H) as a coenzyme and it is the main enzyme involved in the last metabolic step leading to (2R,3R)-2,3-butanediol in yeast. In this study, we have used the activity of Bdh1p, in different forms: purified enzyme, yeast extracts, permeabilized yeast cells, and as a fusion protein (with yeast formate dehydrogenase, Fdh1p) to transform several vicinal diketones to the corresponding diols. We have also developed a new variant of the "delitto perfetto" methodology to place BDH1 under the control of the GAL1 promoter, resulting in a yeast strain that overexpresses butanediol dehydrogenase and formate dehydrogenase activities in the presence of galactose and regenerates NADH in the presence of formate. While the use of purified Bdh1p allows the synthesis of enantiopure (2R,3R)-2,3-butanediol, (2R,3R)-2,3-pentanediol, (2R,3R)-2,3-hexanediol and (3R,4R)-3,4-hexanediol, the use of the engineered strain (as an extract or as permeabilized cells), yields mixtures of the diols. The production of pure diol stereoisomers has also been achieved by means of a chimeric fusion protein combining Fdh1p and Bdh1p. Finally, we have determined the selectivity of Bdh1p towards the oxidation/reduction of the hydroxyl/ketone groups from (2R,3R)-2,3-pentanediol/2,3-pentanedione and (2R,3R)-2,3-hexanediol/2,3-hexanedione. In conclusion, Bdh1p is an enzyme with biotechnological interest that can be used to synthesize chiral building blocks. A scheme of the favored pathway with the corresponding intermediates is proposed for the Bdh1p reaction.

Published
2016

21. Brief Report: Late‐Onset Cryopyrin‐Associated Periodic Syndrome Due to Myeloid‐Restricted Somatic NLRP3 Mosaicism

Author

Mensa‐Vilaro, Anna, primary, Teresa Bosque, María, additional, Magri, Giuliana, additional, Honda, Yoshitaka, additional, Martínez‐Banaclocha, Helios, additional, Casorran‐Berges, Marta, additional, Sintes, Jordi, additional, González‐Roca, Eva, additional, Ruiz‐Ortiz, Estibaliz, additional, Heike, Toshio, additional, Martínez‐Garcia, Juan J., additional, Baroja‐Mazo, Alberto, additional, Cerutti, Andrea, additional, Nishikomori, Ryuta, additional, Yagüe, Jordi, additional, Pelegrín, Pablo, additional, Delgado‐Beltran, Concha, additional, and Aróstegui, Juan I., additional

Published
2016
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22. Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures.

Author

Peris, Pilar, González‐Roca, Eva, Rodríguez‐García, Sebastian C, del Mar López‐Cobo, María, Monegal, Ana, and Guañabens, Núria

Subjects
GENETIC mutation, ALKALINE phosphatase, FEMUR
Abstract

Atypical femoral fractures (AFFs) are uncommon and often related to prolonged bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue nonspecific alkaline phosphatase (ALPL). Moreover, mutations in the geranylgeranyl pyrophosphate synthase (GGPPS) gene, which can be inhibited by BPs, and in the enzyme of the cytochrome P450 superfamily (CYP1A1), related to the metabolism of several drugs, have also been associated with AFF development. Our aim was to analyze the incidence of ALPL, GGPS1, and CYP1A1 gene mutations in patients with AFFs and their clinical characteristics. Seventeen women with AAFs were included. All patients underwent Sanger sequencing of the ALPL, GGPS1, and CYP1A1 genes, analyzing the presence of mutations and polymorphisms in these genes. The clinical characteristics of the patients, previous treatments, ALP substrates (vitamin B6 and phosphoethanolamine), bone turnover markers, and bone mass were also analyzed. Three of 17 patients (17.6%) presented heterozygous mutations in the ALPL (p.Gly288Ala) or CYP1A1 (p.Arg136His, p.Val409Ile) genes. Only the patient with the ALPL mutation presented increased ALP substrates. Patients with CYP1A1 variants had glucocorticoid‐induced osteoporosis. All patients were previously treated with BPs during 85.5 ± 38 months, and nearly 50% were also treated with glucocorticoids. The AFF was bilateral in 35% of cases. In conclusion, ALPL and CYP1A1 mutations may be related to the development of AFF in patients treated with BPs. The evaluation of ALP substrates in patients with low ALPL levels allows the identification of patients with hypophosphatasia. The role of CYP1A1 mutations in AFF needs further study. © 2018 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research. [ABSTRACT FROM AUTHOR]

Published
2019
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23. Disseny i implementació de la base de dades d'un sistema centralitzat de control de despesa pública dels parlaments europeus

Author

González Roca, Eva, Universitat Oberta de Catalunya, and Rella Ruiz, Manel

Subjects
Bases de dades -- Disseny -- TFC, bases de datos relacionales, relational databases, Database design -- TFC, bases de dades relacionals, Oracle, Bases de datos -- Diseño -- TFC
Abstract

La Comunitat Europea ha decidit realitzar una base de dades per controlar la despesa pública parlamentària, tant dels parlaments com dels seus parlamentaris, i que les dades puguin ser consultades on line. L'objectiu del present treball és realitzar la base de dades on es guardarà la informació indicada pel client, així com un seguit de consultes i dades estadístiques que es podran consultar a través d'una plana web. La Comunidad Europea ha decidido realizar una base de datos para controlar el gasto público parlamentaria, tanto los parlamentos como de sus parlamentarios, y que los datos puedan ser consultados on line. El objetivo del presente trabajo es realizar la base de datos donde se guardará la información indicada por el cliente, así como una serie de consultas y datos estadísticos que se podrán consultar a través de una página web. Bachelor thesis for the Computer Science program on Databases.

Published
2014

26. Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

Author

Hernández-Rodríguez, José, primary, Ruíz-Ortiz, Estíbaliz, additional, Tomé, Adrià, additional, Espinosa, Gerard, additional, González-Roca, Eva, additional, Mensa-Vilaró, Anna, additional, Prieto-González, Sergio, additional, Espígol-Frigolé, Georgina, additional, Mensa, Josep, additional, Cardellach, Francesc, additional, Grau, Josep M., additional, Cid, Maria C., additional, Yagüe, Jordi, additional, Aróstegui, Juan I., additional, and Cervera, Ricard, additional

Published
2016
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27. Estudi funcional de la butanodiol deshidrogenasa (Bdh1p) de Saccharomyces cerevisiae. Aplicacions biotecnològiques a la indústria cervesera

Author

González Roca, Eva, Biosca Vaqué, Josep Antoni, Parés i Casasampera, Xavier, and Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular

Subjects
Ciències Experimentals, Llevat, Butanodiol, Cervesa
Abstract

La seqüenciació del genoma de Saccharomyces cerevisiae al 1996 va revelar que el 60% dels aproximadament 6000 gens del llevat codificaven per proteïnes de funció desconeguda. Donat que el nostre laboratori investiga l'estructura i funció d'enzims de la superfamíla de les deshidrogenases/reductases de cadena mitja (MDR), vàrem realitzar una búsqueda en el genoma del llevat de possibles membres MDR encara no caracteritzats. Es van identificar 12 ORFs, dels quals 5 eren de funció desconeguda. La present tesi doctoral ha estudiat la funció de l'enzim codificat per un d'aquests gens, el YAL060W.S'ha clonat i expressat el gen YAL060W de S. cerevisiae per determinar l'activitat del seu producte gènic. El gen YAL060W, que s'ha anomenat BDH1, codifica per una butanodiol deshidrogenasa: la Bdh1p. Aquest enzim pertany a la superfamília enzimàtica de les MDR i és la primera butanodiol deshidrogenasa d'aquesta superfamília descrita en un organisme eucariòtic.Els principals substrats de l'enzim són l'acetoïna i el 2,3-butanodiol, i a més, és estereoespecífic pels isòmers d'aquests substrats en configuració R. Altres substrats de l'enzim són el diacetil i la 2,3-pentanodiona, a més de compostos amb grups diol, dicetona o hidroxicetona contigus. La Bdh1p és un enzim específic pel coenzim NAD(H). La Bdh1p s'expressa preferencialment a la fase estacionària quan s'esgota la glucosa del medi, així com quan es creix el llevat en fonts de carboni com l'etanol o la galactosa. S'ha identificat un altre enzim actiu amb diacetil i NADH en els homogenats de S. cerevisiae que ha resultat ser l'alcohol deshidrogenasa II (Adh2p). Aquest enzim és també actiu amb 2,3-pentanodiona, però no ho és amb acetoïna o 2,3-butanodiol. La reducció d'aquests compostos també és estereoespecífica però pels grups en configuració S.Durant la fermentació, S. cerevisiae produeix i acumula acetoïna i 2,3-butanodiol. La Bdh1p és la responsable de la producció de l'isòmer (2R,3R)-2,3-butanodiol. La deleció del gen BDH1 elimina l'acumulació d'aquest compost al medi així com l'activitat acetoïna reductasa en homogenats de llevat crescut en glucosa. Per tant, durant la fermentació alcohòlica la Bdh1p reduiria l'acetoïna sintetitzada a partir d'acetaldehid per la piruvat descarboxilasa, produint el 2,3-butanodiol. La Bdh1p seria l'enzim responsable d'aquesta branca secundària del metabolisme fermentatiu, que podria contribuir a regular el balanç redox de manera fina. En canvi la deleció dels gens ADH2 i YAL061W (amb un 51% d'identitat seqüencial amb el BDH1) no afecten al patró d'excreció del butanodiol, però es veu reduïda l'activitat diacetil reductasa en un 58% en fase exponencial i un 34% a la fase estacionària.Diacetil i 2,3-pentanodiona, també anomenats VDKs, són compostos organolèptics indesitjables que es produeixen durant la fabricació industrial de cervesa i que són eliminats durant un llarg període de maduració. Les VDKs són substrats de la Bdh1p, el que donava la possibilitat de que soques de llevat que sobreexpressessin la Bdh1p acceleressin l'eliminació d'aquests compostos i poguessin reduir el temps de maduració de la cervesa. Per això es va sobreexpressar la Bdh1p sota el control del promotor ADH1 en la soca industrial cervesera SID amb vectors centromèrics i multicòpia. Aquestes soques disminuïen, en certes condicions, l'acumulació de VDKs durant la fermentació del most. També es va modificar genèticament la mateixa soca industrial per tal de sobreexpressar la Bdh1p de manera estable, però la fermentació de most industrial amb aquesta soca modificada no va afectar els nivells d'acumulació de VDKs al medi. Les aplicacions biotecnològiques es varen estudiar amb la participació de l'empresa S.A. Damm., The sequencing of the genome of the yeast Saccharomyces cerevisiae finished in 1996, revealing that approximately 60% of their 6000 genes, coded for proteins of unknown function. As our laboratory is interested in the relationship between the structure and function of medium chain dehydrogenases/reductases (MDR), we screened the yeast genome for MDR members uncharacterised until then. We identified 12 ORFs, 5 of which were of unknown function. The present doctoral thesis presents the studies carried out with the enzyme encoded by one of those genes, YAL060W.The YAL060W gene from S. cerevisiae has been cloned and expressed in a yeast vector. The gene, that we have named BDH1, codes for a butanediol dehydrogenase: Bdh1p. This enzyme is the first butanediol dehydrogenase described in an eukaryote, belonging to the MDR superfamily.Acetoin and 2,3-butanediol are the best substrates for the enzyme, that is stereoespecific for the oxidation of the R isomers of the diol and for the reduction of the acetoin yielding a centre with an R configuration. Other substrates for the enzyme are diacetyl and 2,3-pentanodione, and also those compounds containing vicinal diol, diketone or hydroxy-ketone groups. Bdh1p is extremely specific for NAD(H) as coenzyme.Bdh1p is induced in the stationary phase when yeast has exhausted the glucose from the medium. It is also expressed in yeasts grown in ethanol or galactose as carbon sources.We identified another enzyme active with diacetyl and NADH in S. cerevisiae extracts that turned out to be alcohol dehydrogenase II (Adh2p). Adh2p is also active with 2,3-pentanedione, but not with acetoin or 2,3-butanediol. Reduction of these compounds is also stereospecific, but yielding an hydroxyketone with an S configuration.All the stereoisomers of 2,3-butanediol and acetoin are produced by S. cerevisiae during fermentation, being Bdh1p responsible of the production of (2R,3R)-2,3-butanediol. Deletion of the BDH1 gene eliminates the excretion of (2R,3R)-2,3-butanediol, resulting in an accumulation of R-acetoin. So, during alcoholic fermentation Bdh1p reduces acetoin, synthesised by pyruvate decarboxylase from acetaldehyde, to 2,3-butanediol. By its presence in this secondary fermentative pathway, Bdh1p can contribute to the regulation of the redox balance in yeast.Deletion of the ADH2 andYAL061W (with a 51% of sequence identity with BDH1) genes, results in a substantial decrease of the diacetyl reductase activity (58% in the exponential phase and 34% in the stationary phase), although doesn't affect the proportion of butanediol isomers excreted during alcoholic fermentation.Diacetyl and 2,3-pentanedione, also called VDKs, have unpleasant organoleptic properties above a certain threshold, and are produced during the industrial production of beer. The concentration of both compounds needs to be reduced during a long maturation time. Since VDKs are substrates of Bdh1p, we hypothesized that yeast strains overexpressing Bdh1p could accelerate the elimination of these compounds, resulting, then, in a shortenig of the maturation step in beer production. We overexpressed Bdh1p under the control of the ADH1 promoter by using centromeric and multicopy vectors in an industrial beer yeast strain, called SID. The overexpression of Bdh1p from yeast expression vectors in the industrial strain, reduced, in some conditions, the accumulation of VDKs during must fermentation. In order to overexpress Bdh1p in a stable way, we then inserted the Bdh1p construct in the SID genome, but must fermentation with this strain did not result in reduced levels of VDKs. These biotechnological applications were done in collaboration with the firm S.A. DAMM.

Published
2004

31. Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase.

Author

Calam, Eduard, González-Roca, Eva, Rosario Fernández, M., Dequin, Sylvie, Parés, Xavier, Virgili, Albert, and Biosca, Josep A.

Subjects
*SACCHAROMYCES cerevisiae, *BUTANEDIOL, *DEHALOGENASES, *NAD (Coenzyme), *STEREOISOMERS, *CHIMERIC proteins
Abstract

Butanediol dehydrogenase (Bdh1p) from Saccharomyces cerevisiae belongs to the superfamily of the medium-chain dehydrogenases and reductases and converts reversibly R-acetoin and S-acetoin to (2R,3R)-2,3-butanediol and meso-2,3-butanediol, respectively. It is specific for NAD(H) as a coenzyme, and it is the main enzyme involved in the last metabolic step leading to (2R,3R)-2,3-butanediol in yeast. In this study, we have used the activity of Bdh1p in different forms-purified enzyme, yeast extracts, permeabilized yeast cells, and as a fusion protein (with yeast formate dehydrogenase, Fdh1p)-to transform several vicinal diketones to the corresponding diols. We have also developed a new variant of the delitto perfetto methodology to place BDH1 under the control of the GAL1 promoter, resulting in a yeast strain that overexpresses butanediol dehydrogenase and formate dehydrogenase activities in the presence of galactose and regenerates NADH in the presence of formate. While the use of purified Bdh1p allows the synthesis of enantiopure (2R,3R)-2,3-butanediol, (2R,3R)-2,3-pentanediol, (2R,3R)-2,3-hexanediol, and (3R,4R)-3,4-hexanediol, the use of the engineered strain (as an extract or as permeabilized cells) yields mixtures of the diols. The production of pure diol stereoisomers has also been achieved by means of a chimeric fusion protein combining Fdh1p and Bdh1p. Finally, we have determined the selectivity of Bdh1p toward the oxidation/reduction of the hydroxyl/ketone groups from (2R,3R)-2,3-pentanediol/2,3-pentanedione and (2R,3R)-2,3-hexanediol/2,3-hexanedione. In conclusion, Bdh1p is an enzyme with biotechnological interest that can be used to synthesize chiral building blocks. A scheme of the favored pathway with the corresponding intermediates is proposed for the Bdh1p reaction. [ABSTRACT FROM AUTHOR]

Published
2016
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33. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016

Author

Lomakina, Olga, Alekseeva, Ekaterina, Valieva, Sania, Bzarova, Tatiana, Nikishina, Irina, Zholobova, Elena, Rodionovskaya, Svetlana, Kaleda, Maria, Nakagishi, Yasuo, Shimizu, Masaki, Mizuta, Mao, Yachie, Akihiro, Sugita, Yuko, Okamoto, Nami, Shabana, Kousuke, Murata, Takuji, Tamai, Hiroshi, Smith, Eve M., Yin, Peng, Jorgensen, Andrea L., Beresford, Michael W., Eleuteri, Antonio, Goilav, Beatrice, Lewandowski, Laura, Phuti, Angel, Wahezi, Dawn, Rubinstein, Tamar, Jones, Caroline, Newland, Paul, Marks, Stephen, Corkhill, Rachel, Ekdawy, Diana, Pilkington, Clarissa, Tullus, Kjell, Putterman, Chaim, Scott, Chris, Fisher, Antony C., Jorgensen, Andrea, Batu, Ezgi Deniz, Kosukcu, Can, Taskiran, Ekim, Akman, Sema, Ozturk, Kubra, Sozeri, Betul, Unsal, Erbil, Ekinci, Zelal, Bilginer, Yelda, Alikasifoglu, Mehmet, Ozen, Seza, Lythgoe, Hanna, Brunner, Hermine I., Gulati, Gaurav, Jones, Jordan T., Altaye, Mekibib, Eaton, Jamie, Difrancesco, Mark, Yeo, Joo Guan, Leong, Jingyao, Bathi, Loshinidevi D/O Thana, Arkachaisri, Thaschawee, Albani, Salvatore, Abdelrahman, Nagla, Beresford, Michael W, Leone, Valentina, Groot, Noortje, Shaikhani, D., Bultink, I. E. M., Bijl, M., Dolhain, R. J. E. M., Teng, Y. K. O., Zirkzee, E., de Leeuw, K., Fritsch-Stork, R., Kamphuis, S. S. M., Wright, Rachael D., Abdawani, Reem, Al Shaqshi, Laila, Al Zakwani, Ibrahim, Gormezano, Natali W., Kern, David, Pereira, Oriany L., Esteves, Gladys C. C., Sallum, Adriana M., Aikawa, Nadia E., Pereira, Rosa M., Silva, Clovis A., Bonfa, Eloisa, Beckmann, Jessica, Bartholomä, Nora, Venhoff, Nils, Henneke, Philipp, Salzer, Ulrich, Janda, Ales, Boteanu, Alina Lucica, Corral, Sandra Garrote, Giraldo, Alberto Sifuentes, Gámir, Mariluz Gámir, Mendoza, Antonio Zea, Adrovic, Amra, Dedeoglu, Reyhan, Sahin, Sezgin, Barut, Kenan, Koka, Aida, Oztunc, Funda, Kasapcopur, Ozgur, Rodriguez-Lozano, Ana Luisa, Rivas-Larrauri, Francisco, de la Puente, Silvestre García, Alves, Andressa G. F., Giacomin, Maria F. D. A., Farhat, Juliana, Braga, Alfésio L. F., Sallum, Adriana M. E., Campos, Lúcia M. D. A., Pereira, Luiz A. A., Lichtenfels, Ana J. D. F. C., Silva, Clóvis A., Farhat, Sylvia C. L., Acar, Banu, Ozcakar, Z. Birsin, Çakar, Nilgün, Uncu, Nermin, Gür, Gökçe, Özdel, Semanur, Yalçınkaya, Fatoş, Scott, Christiaan, Brice, Nicky, Nourse, Peter, Arango, Christine, Mosquera, Angela C., Malagon, Clara, Sakamoto, Ana P., Silva, Marco F. C. D., Lopes, Ananadreia S., Russo, Gleice C. S., Sallum, Adriana E. M., Kozu, Katia, Bonfá, Eloisa, Saad-Magalhães, Claudia, Pereira, Rosa M. R., Len, Claudio A., Terreri, Maria T., Suri, Deepti, Didel, Siyaram, Rawat, Amit, Singh, Surjit, Maritsi, Despoina, Onoufriou, MArgarita, Vougiouka, Olga, Tsolia, Maria, Bosak, Edi Paleka, Vidović, Mandica, Lamot, Mirta, Lamot, Lovro, Harjaček, Miroslav, Van Nieuwenhove, Erika, Liston, Adrian, Wouters, Carine, Tahghighi, Fatemeh, Ziaee, Vahid, Raeeskarami, Seid-Reza, Aguiar, Francisca, Pereira, Sandra, Rodrigues, Mariana, Moura, Cláudia, Rocha, Gustavo, Guimarães, Hercília, Brito, Iva, Fonseca, Rita, Horneff, Gerd, Klein, Ariane, Minden, Kirsten, Huppertz, Hans-Iko, Weller-Heinemann, Frank, Kuemmerle-Deschner, Jasmin, Haas, J-Peter, Hospach, Anton, Menendez-Castro, Ricardo, Huegle, Boris, Haas, Johannes-Peter, Swart, Joost, Giancane, Gabriella, Bovis, Francesca, Castagnola, Elio, Groll, Andreas, Lovell, Daniel J., Wolfs, Tom, Hofer, Michael, Panaviene, Violeta, Nielsen, Susan, Anton, Jordi, Uettwiller, Florence, Stanevicha, Valda, Trachana, Maria, Marafon, Denise Pires, Ailioaie, Constantin, Tsitsami, Elena, Kamphuis, Sylvia, Herlin, Troels, Doležalová, Pavla, Susic, Gordana, Flatø, Berit, Sztajnbok, Flavio, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Gattorno, Marco, Brucato, Antonio, Finetti, Martina, Lazaros, George, Maestroni, Silvia, Carraro, Mara, Cumetti, Davide, Carobbio, Alessandra, Lorini, Monia, Rimini, Alessandro, Marcolongo, Renzo, Valenti, Anna, Erre, Gian Luca, Belli, Riccardo, Gaita, Fiorenzo, Sormani, Maria Pia, Imazio, Massimo, Abinun, Mario, Smith, Nicola, Rapley, Tim, McErlane, Flora, Kearsley-Fleet, Lianne, Hyrich, Kimme L., Foster, Helen, Tzaribachev, Nikolay, Zeft, Andrew, Cimaz, Rolando, Bohnsack, John, Griffin, Thomas, Carrasco, Ruy, Dare, Jason, Foeldvari, Ivan, Vehe, Richard, Simon, Teresa, Brunner, Hermine, Verazza, S., Davì, S., Consolaro, A., Insalaco, A., Gerloni, V., Cimaz, R., Zulian, F., Pastore, S., Corona, F., Conti, G., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A. N., Civino, A., Podda, R., Rigante, D., La Torre, F., D’Angelo, G., Jorini, M., Gallizzi, R., Maggio, M. C., Consolini, R., De Fanti, A., Alpigiani, M. G., Martini, A., Ravelli, A., Kısaarslan, Aysenur Pac, Gunduz, Zubeyde, Dusunsel, Ruhan, Dursun, Ismail, Poyrazoglu, Hakan, Kuchinskaya, Ekaterina, Abduragimova, Farida, Kostik, Mikhail, Sundberg, Erik, Omarsdottir, Soley, Klevenvall, Lena, Erlandsson-Harris, Helena, Basbozkurt, Gokalp, Erdemli, Ozge, Simsek, Dogan, Yazici, Fatih, Karsioglu, Yildirim, Tezcaner, Aysen, Keskin, Dilek, Ozkan, Huseyin, Acikel, Cengizhan, Demirkaya, Erkan, Orbán, Ilonka, Sevcic, Krisztina, Brodszky, Valentin, Kiss, Emese, Tekko, Ismaiel A., Rooney, Madeleine, McElnay, James, Taggart, Cliff, McCarthy, Helen, Donnelly, Ryan F., Slatter, Mary, Nademi, Zohreh, Friswell, Mark, Jandial, Sharmila, Flood, Terence, Hambleton, Sophie, Gennery, Andrew, Cant, Andrew, Duong, Phoi-Ngoc, Koné-Paut, Isabelle, Filocamo, Giovanni, Gamir, María Luz, Sanner, Helga, Carenini, Laura, Topdemir, Mesut, Karslioglu, Yildirim, Gok, Faysal, Tsurikova, Nadezhda, Ligostaeva, Elena, Ramchurn, Navdha R., Kostareva, O., Nikishina, I., Arsenyeva, S., Rodionovskaya, S., Kaleda, M., Alexeev, D., Dursun, Ismail Dursun, Murias, Sara, Barral, Estefania, Alcobendas, Rosa, Enriquez, Eugenia, Remesal, Agustin, de Inocencio, Jaime, Castro, Tania M., Lotufo, Simone A., Freye, Tatjana, Carlomagno, Raffaella, Zumbrunn, Thomas, Bonhoeffer, Jan, Schneider, Elvira Cannizzaro, Kaiser, Daniela, Hofer, Michaël, Hentgen, Véronique, Woerner, Andreas, Schwarz, Tobias, Klotsche, Jens, Niewerth, Martina, Ganser, Gerd, Jeyaratnam, Jerold, ter Haar, Nienke, Rigante, Donato, Dedeoglu, Fatma, Baris, Ezgi, Vastert, Sebastiaan, Frenkel, Joost, Hausmann, Jonathan S., Lomax, Kathleen G., Shapiro, Ari, Durrant, Karen L., Brogan, P. A., Hofer, M., Kuemmerle-Deschner, J. B., Lauwerys, B., Speziale, A., Leon, K., Wei, X., Laxer, R. M., Signa, Sara, Rusmini, Marta, Campione, Elena, Chiesa, Sabrina, Grossi, Alice, Omenetti, Alessia, Caorsi, Roberta, Viglizzo, Gianmaria, Ceccherini, Isabella, Federici, Silvia, Lachmann, Helen, Ruperto, Nicola, Vanoni, Federica, Gomes, Sonia Melo, Omoyinmi, Ebun, Arostegui, Juan I., Gonzalez-Roca, Eva, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul, Volpi, Stefano, Santori, Elettra, Picco, Paolo, Pastorino, Claudia, Rice, Gillian, Tesser, Alessandra, Crow, Yanick, Candotti, Fabio, Sinoplu, Ada B., Yucel, Gozde, Pamuk, Gizem, Damian, Laura O., Lazea, Cecilia, Sparchez, Mihaela, Vele, Paulina, Muntean, Laura, Albu, Adriana, Rednic, Simona, Lazar, Calin, Mendonça, Leonardo O., Pontillo, Alessandra, Kalil, Jorge, Castro, Fabio M., Barros, Myrthes T., Pardeo, Manuela, Messia, Virginia, De Benedetti, Fabrizio, Insalaco, Antonella, Malighetti, Giorgia, Gorio, Chiara, Ricci, Francesca, Parissenti, Ilaria, Montesano, Paola, Bonafini, Barbara, Medeghini, Veronica, Cattalini, Marco, Giordano, Lucio, Zani, Giulia, Ferraro, Rosalba, Vairo, Donatella, Giliani, Silvia, Maggio, Maria Cristina, Luppino, Girolamo, Corsello, Giovanni, Fernandez, Maria Isabel Gonzalez, Montesinos, Berta Lopez, Vidal, Adriana Rodriguez, Gorospe, Juan I. Arostegui, Penades, Inmaculada Calvo, Rafiq, Nadia K., Wynne, Karen, Hussain, Khalid, Brogan, Paul A., Ang, Elizabeth, Ng, Nicholas, Kacar, Ayla, Gucenmez, Ozge Altug, Makay, Balahan, Unsal, Sevket Erbil, Sahin, Yasin, Kutlu, Tufan, Cullu-Cokugras, Fugen, Ayyildiz-Civan, Hasret, Erkan, Tulay, Al Zuhbi, Sana, Abdalla, Eiman, Russo, Ricardo A., Katsicas, María M., Minoia, Francesca, Ravelli, Angelo, Bhattad, Sagar, Gupta, Anju, Pandiarajan, Vignesh, Nada, Ritambhra, Tiewsoh, Kaara, Hawkins, Philip, Rowczenio, Dorota, Fingerhutova, Sarka, Franova, Jana, Prochazkova, Leona, Hlavackova, Eva, Dolezalova, Pavla, Evrengül, Havva, Yüksel, Selçuk, Doğan, Mustafa, Gürses, Dolunay, Evrengül, Harun, De Pauli, Silvia, Pastore, Serena, Bianco, Anna Monica, Severini, Giovanni Maria, Taddio, Andrea, Tommasini, Alberto, Salugina, Svetlana O., Fedorov, Evgeny, Kamenets, Elena, Zaharova, Ekaterina, Sleptsova, Tatiana, Alexeeva, Ekaterina, Savostyanov, Kirill, Pushkov, Alexander, Bzarova, Tatyana, Valieva, Saniya, Denisova, Rina, Isayeva, Kseniya, Chistyakova, Evgeniya, Soloshenko, Margarita, Kaschenko, Elena, Kaneko, Utako, Imai, Chihaya, Saitoh, Akihiko, Teixeira, Vitor A., Ramos, Filipa O., Costa, Manuela, Aviel, Yonatan Butbul, Fahoum, Shafe, Brik, Riva, Özçakar, Zeynep Birsin, Celikel, Banu Acar, Yalcinkaya, Fatos, Schiappapietra, Benedetta, Davi’, Sergio, Mongini, Federica, Giannone, Luisa, Bava, Cecilia, Alpigiani, Maria Giannina, Consolaro, Alessandro, Lazarevic, Dragana S., Vojinovic, Jelena, Basic, Jelena, Muratore, Valentina, Marzetti, Valentina, Quilis, Neus, Benavente, Belen Serrano, Alongi, Alessandra, Civino, Adele, Quartulli, Lorenzo, Januskeviciute, Giedre, van Dijkhuizen, Pieter, Groot, N., van Dijk, W., Kardolus, A., Suárez, Raul Gutiérrez, Nordal, Ellen B., Rypdal, Veronika G., Berntson, Lillemor, Ekelund, Maria, Aalto, Kristiina, Peltoniemi, Suvi, Zak, Marek, Glerup, Mia, Arnstad, Ellen D., Fasth, Anders, Rygg, Marite, Duarte, Ana Catarina, Sousa, Sandra, Teixeira, Lídia, Cordeiro, Ana, Santos, Mª José, Mourão, Ana Filipa, Santos, Maria José, Eusébio, Mónica, Lopes, Ana, Oliveira-Ramos, Filipa, Salgado, Manuel, Estanqueiro, Paula, Melo-Gomes, José, Martins, Fernando, Costa, José, Furtado, Carolina, Figueira, Ricardo, Branco, Jaime C., Fonseca, João E., Canhão, Helena, Mourão, Ana F., Santos, Maria Jose, Coda, Andrea, Cassidy, Samuel, West, Kerry, Hendry, Gordon, Grech, Debra, Jones, Julie, Hawke, Fiona, Grewal, Davinder Singh, Foley, Charlene, Killeen, Orla, MacDermott, Emma, Veale, Douglas, Fearon, Ursula, Konukbay, Dilek, Tarakci, Ela, Arman, Nilay, Şahin, Sezgin, Munro, Jane, Morgan, Esi, Riebschleger, Meredith, Horonjeff, Jennifer, Strand, Vibeke, Bingham, Clifton, Collante, Ma. Theresa M., Ganeva, Margarita, Stefanov, Stefan, Telcharova, Albena, Mihaylova, Dimitrina, Saraeva, Radoslava, Tzveova, Reni, Kaneva, Radka, Tsakova, Adelina, Temelkova, Katya, Picarelli, Maria Mercedes C., Danzmann, Luiz C., Barbé-Tuana, Florencia, Grun, Lucas K., Jones, Marcus H., Frković, Marijan, Ištuk, Karla, Birkić, Ika, Sršen, Saša, Jelušić, Marija, Easton, Alan, Quarmby, Rachael, Khubchandani, Raju, Chan, Mercedes, Srp, Radoslav, Kobrova, Katerina, Nemcova, Dana, Hoza, Jozef, Uher, Michal, Saifridova, Melania, Linkova, Lenka, Charuvanij, Sirirat, Leelayuwattanakul, Isree, Pacharapakornpong, Thita, Vallipakorn, Sakda A.-O., Lerkvaleekul, Butsabong, Vilaiyuk, Soamarat, Lanni, Stefano, Davì, Sergio, Cron, Randy Q., Passarelli, Chiara, Pisaneschi, Elisa, Novelli, Antonio, Bracaglia, Claudia, Caiello, Ivan, de Graaf, Kathy, Guilhot, Florence, Ferlin, Walter, Schulert, Grant, Grom, Alexi A., Nelson, Robert, de Min, Cristina, Holzinger, Dirk, Kessel, Christoph, Fall, Ndate, Grom, Alexei, de Jager, Wilco, Strippoli, Raffaele, Horne, Anna, Ehl, Stephan, Ammann, Sandra, Lehmberg, Kai, Beutel, Karin, Foell, Dirk, Horne, AnnaCarin, Pagani, Laura, Espada, Graciela, Gao, Yi-jin, Shenoi, Susan, Weitzman, Sheila, Prencipe, Giusi, Pascarella, Antonia, Ferlin, Walter G., Chatel, Laurence, Jacqmin, Philippe, De Graaf, Kathy, Ballabio, Maria, Johnson, Zoë, Lapeyre, Geneviève, de Benedetti, Fabrizio, Cristina, de Min, Wakiguchi, Hiroyuki, Hasegawa, Shunji, Hirano, Reiji, Okazaki, Fumiko, Nakamura, Tamaki, Kaneyasu, Hidenobu, Ohga, Shouichi, Yamazaki, Kazuko, Nozawa, Tomo, Kanetaka, Taichi, Ito, Shuichi, Yokota, Shumpei, McLellan, Kirsty, MacGregor, Ishbel, Martin, Neil, Davidson, Joyce, Hansmann, Sandra, Eikelberg, Andreas, Haug, Iris, Schuller, Sabrina, Benseler, Susanne M., Nazarova, Liliia S., Danilko, Kseniia V., Malievsky, Viktor A., Viktorova, Tatiana V., Mauro, Angela, Barnicoat, Angela, Hurst, Jane, Canham, Nathalie, Lacassagne, Sandrine, Wiener, Anastasia, Hügle, Boris, Denecke, Bernd, Costa-Filho, Ivan, Haas, Johannes Peter, Tenbrock, Klaus, Popp, David, Boltjes, Arjan, Rühle, Frank, Herresthal, Stefanie, van Wijk, Femke, Schultze, Joachim, Stoll, Monika, Klotz, Luisa, Vogl, Thomas, Roth, Johannes, Quesada-Masachs, Estefania, de la Sierra, Daniel Álvarez, Prat, Marina Garcia, Sánchez, Ana M. Marín, Borrell, Ricardo Pujol, Barril, Sara Marsal, Gallo, Mónica Martínez, Caballero, Consuelo Modesto, Chyzheuskaya, Iryna, Byelyaeva, Lyudmyla M., Filonovich, Rostislav M., Khrustaleva, Helena K., Zajtseva, Larisa I., Yuraga, Tamara M., Giner, Thomas, Hackl, Lukas, Albrecht, Julia, Würzner, Reinhard, Brunner, Juergen, Minute, Marta, Parentin, Fulvio, Nocerino, Agostino, Nørgaard, Mette, Alberdi-Saugstrup, Mikel, Zak, Marek S., Nielsen, Susan M., Nordal, Ellen, Müller, Klaus G., Avramovič, Mojca Zajc, Dolžan, Vita, Toplak, Nataša, Avčin, Tadej, Ruperto, N., Lovell, D. J., Wallace, C., Toth, M., Foeldvari, I., Bohnsack, J., Milojevic, D., Rabinovich, C., Kingsbury, D., Marzan, K., Quartier, P., Minden, K., Chalom, E., Horneff, G., Kuester, R. M., Dare, J., Heinrich, M., Kupper, H., Kalabic, J., Brunner, H. I., Burgos-Vargas, Ruben, Constantin, Tamas, Dehoorne, Joke, Stanevica, Valda, Kobusinska, Katarzyna, Zuber, Zbigniew, Mouy, Richard, Rumba-Rozenfelde, Ingrida, Job-Deslandre, Chantal, Pederson, Ronald, Bukowski, Jack, Hinnershitz, Tina, Vlahos, Bonnie, Keskitalo, Paula, Kangas, Salla, Vähäsalo, Paula, Valencia, Raul A. Chavez, Martino, David, Ponsonby, Anne-Louise, Chiaroni-Clarke, Rachel, Meyer, Braydon, Allen, Roger C., Akikusa, Jonathan D., Craig, Jeffrey M., Saffrey, Richard, Ellis, Justine A., Wallace, Carol, Uziel, Yosef, Sterba, Gary, Schneider, Rayfel, Russo, Ricardo, Ramanan, Athimalaipet V., Schmid, Jana Pachlopnik, Nichols, Kim E, Miettunen, Paivi, Kitoh, Toshiyuki, Ilowite, Norman T., Henter, Jan-Inge, Grom, Alexei A, Behrens, Edward M., Avcin, Tadej, Aricò, Maurizio, Grevich, Sriharsha, Lee, Peggy, Ringold, Sarah, Leroux, Brian, Leahey, Hannah, Yuasa, Megan, Foster, Jessica, Sokolove, Jeremy, Lahey, Lauren, Robinson, William, Newson, Joshua, Stevens, Anne, Shoop, Stephanie J. W., Verstappen, Suzanne M. M., Thomson, Wendy, McDonagh, Janet E., Beukelman, Timothy, Kimura, Yuki, Natter, Marc, Ilowite, Norm, Mieszkalski, Kelly, Burrell, Grendel, Best, Brian, Bristow, Helen, Carr, Shannon, Dennos, Anne, Kaufmann, Rachel, Schanberg, Laura, Simonini, Gabriele, Lancini, Francesca, Gerbaux, Margaux, Lê, Phu-Quoc, Goffin, Laurence, Badot, Valérie, La, Céline, Caspers, Laure, Willermain, François, Ferster, Alina, Ceci, Maria, Licciardi, Francesco, Turco, Marco, Santarelli, Francesca, Montin, Davide, Toppino, Claudia, Alizzi, Clotilde, Papia, Bruno, Vergara, Beatrice, Corpora, Umberto, Messina, Luca, Tsinti, Maria, Dermentzoglou, Vasiliko, Tziavas, Panagiotis, Perica, Marija, Bukovac, Lana Tambić, Çakan, Mustafa, Ayaz, Nuray Aktay, Keskindemirci, Gonca, Lang, Michael, Laing, Catherine, Benseler, Susanne, Gerschman, Tommy, Luca, Nadia, Schmeling, Heinrike, Dropol, Anastasia, Taiani, Jaymi, Johnson, Nicole, Rusted, Brian, Nalbanti, Panagiota, Pratsidou, Polyxeni, Pardalos, Grigoris, Tzimouli, Vasiliki, Taparkou, Anna, Stavrakidou, Maria, Papachristou, Fotios, Kanakoudi-Tsakalidou, Florence, Bale, Peter, Robinson, Emily, Palman, Jason, Ralph, Elizabeth, Gilmour, Kimberly, Heard, Clare, Wedderburn, Lucy R., Barrense-Dias, Yara, Gregory, Antonarakis, Amira, Dhouib, Paolo, Scolozzi, Sylviane, Hanquinet, Michaël, Hofer, Panko, Nataliya, Shokry, Salah, Rakovska, Liudmila, Pino, Sally, Diaz-Maldonado, Adriana, Guarnizo, Pilar, Torreggiani, Sofia, Cressoni, Paolo, Garagiola, Umberto, Di Landro, Giancarla, Farronato, Giampietro, Corona, Fabrizia, Bell, Samantha, Bhatti, Parveen, Nelson, Lee, Mueller, Beth A., Simon, T. A., Baheti, A., Ray, N., Guo, Z., Hazra, Anasuya, Stock, Thomas, Wang, Ronnie, Mebus, Charles, Alvey, Christine, Lamba, Manisha, Krishnaswami, Sriram, Conte, Umberto, Wang, Min, Kingsbury, Daniel, Koskova, Elena, Smolewska, Elzbieta, Vehe, Richard K., Lovell, Daniel, Kubota, Tomohiro, Yasumura, Junko, Kizawa, Toshitaka, Yashiro, Masato, Yamatou, Tsuyoshi, Yamasaki, Yuichi, Takei, Syuji, Kawano, Yoshifumi, Nykvist, Ulrika Järpemo, Magnusson, Bo, Wicksell, Rikard, Palmblad, Karin, Olsson, Gunnar L., Modaressi, Mohammadreza, Moradinejad, Mohammad-Hassan, Seraya, Valentina, Vitebskaya, Alisa, Moshe, Veronica, Amarilyo, Gil, Harel, Liora, Hashkes, Phillip J, Mendelson, Amir, Rabinowicz, Noa, Reis, Yonit, Dāvidsone, Zane, Lazareva, Arina, Šantere, Ruta, Bērziņa, Dace, Staņēviča, Valda, Varnier, Giulia Camilla, Maillard, Susan, Ferrari, Cristina, Zaffarano, Silvia, Wienke, Judith, Enders, Felicitas Bellutti, van den Hoogen, Lucas L., Mertens, Jorre S., Radstake, Timothy R., Hotten, Henny G., Fritsch, Ruth, Wedderburn, Lucy, Nistala, Kiran, Prakken, Berent, van Royen-Kerkhof, Annet, Alhemairi, Mohammad, Muzaffer, Mohammed, Van Dijkhuizen, Pieter, Deakin, Claire T., Simou, Stefania, De Iorio, Maria, Wu, Qiong, Amin, Tania, Dossetter, Lee, Campanilho-Marques, Raquel, Deakin, Claire, Pilkington, Clarissa A., Rosina, Silvia, Soponkanaporn, Sirisucha, Arıcı, Zehra S., Tuğcu, Gökçen D., Batu, Ezgi D., Sönmez, Hafize E., Doğru-Ersöz, Deniz, Talim, Beril, Kiper, Nural, Özen, Seza, Solyom, Alexander, Batu, Ezgi, Mitchell, John, Kariminejad, Ariana, Hadipour, Fatemeh, Hadipour, Zahra, Torcoletti, Marta, Agostoni, Carlo, Di Rocco, Maja, Tanpaiboon, Pranoot, Superti-Furga, Andrea, Bonafé, Luisa, Arslan, Nur, Guelbert, Norberto, Ehlert, Karoline, Grigelioniene, Giedre, Puri, Ratna, Schuchman, Edward, Gomez, Pilar, Gonzalez, Tatiana, Yepez, Ricardo, Vargas, Camilo, Fernanda, Falcini, Lepri, Gemma, Ferrari, Alessandra, Matucci-Cerinic, Marco, Meini, Antonella, Moneta, Gian Marco, Marasco, Emiliano, Nicolai, Rebecca, Bracci-Laudiero, Luisa, Kopchak, Olga, Mushkin, Alexander, Maletin, Alexey, Mosquera, Catalina, Amorim, Rita A., Molina, Juliana, Moreira, Gustavo, Santos, Flávia H., Fraga, Melissa, Keppeke, Livia, Silva, Vanessa M., Hirotsu, Camila, Tufik, Sergio, Terreri, Maria Teresa, Braga, Vinícius L., Fonseca, Maria Beatriz, Schinzel, Vania, Terreri, Maria Teresa R., Jorge, Liliana, Guerra, Liana, Junior, Edson Amaro, Castiglione, Maria Cristina, Tricarico, Alessandra, Boulter, Emily, Schultz, Andre, Murray, Kevin, Falcini, Fernanda, Stagi, Stefano, Bellucci, Eleonora, Grein, Ingrid H. R., Pileggi, Gecilmara, Pinto, Natália B. F., de Oliveira, Aline L., Belyaeva, Lyudmila, Filonovich, Rostislav, Khrustaleva, Helena, Zajtseva, Larisa, Ilisson, Jaanika, Pruunsild, Chris, Gilliaux, Olivier, Corazza, Francis, Lelubre, Christophe, Morel, Zoilo, C, Claudia Saad-Magalhães, Lira, Luis, Ladino, Mabel, Eraso, Ruth, Arroyo, Ivonne, Silva, Clovis, and Rose, Carlos

Published
2017
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34. Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle-Aged Sisters.

Author

Guañabens, Núria, Mumm, Steven, Möller, Ingrid, González-Roca, Eva, Peris, Pilar, Demertzis, Jennifer L, and Whyte, Michael P

Abstract

ABSTRACT Hypophosphatasia (HPP) is the inborn error of metabolism that features low serum alkaline phosphatase (ALP) activity caused by loss-of-function mutation(s) within the gene for the tissue nonspecific isoenzyme of ALP (TNSALP). In HPP, extracellular accumulation of inorganic pyrophosphate (PPi), a TNSALP substrate and inhibitor of mineralization, leads frequently to premature tooth loss and often to rickets or osteomalacia. In affected adults, the excess PPi sometimes also causes calcium pyrophosphate dihydrate (CPPD) deposition, PPi arthropathy, or pseudogout, or seemingly paradoxical deposition of hydroxyapatite crystals in ligaments or around joints when the condition is called calcific periarthritis (CP). We report three middle-aged sisters with CP as the only clinical manifestation of HPP. Each presented during early adult life with recurrent episodes of pain principally around the shoulders, elbows, wrists, hips, or Achilles tendon. Otherwise, they were in good health, including no history of unusual dental disease, fractures, or pseudofractures. Calcific deposits were identified in symptomatic areas principally by ultrasonographic assessment but also confirmed radiographically. All three sisters had low serum levels of total and bone-specific ALP, hyperphosphatemia, and increased serum concentrations of the TNSALP substrate pyridoxal 5′-phosphate together characteristic of HPP. Mutation analysis revealed that each carried a single unique 18-bp duplication within TNSALP (c.188_205dup18, p.Gly63_Thr68dup) as did two of their healthy sons and their mother, who was without signs of CPPD deposition or CP but had knee osteoarthritis. We find that CP can be the only complication of HPP in adults. Thus, multiple juxta-articular deposits of hydroxyapatite causing CP may be a useful sign of HPP, especially when the CP is familial. © 2014 American Society for Bone and Mineral Research. [ABSTRACT FROM AUTHOR]

Published
2014
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