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11. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Author

Powell, C.A., Kopajtich, R., D'Souza, A.R., Rorbach, J., Kremer, L.S., Husain, R.A., Dallabona, C., Donnini, C., Alston, C.L., Griffin, H., Pyle, A., Chinnery, P.F., Strom, T.M., Meitinger, T., Rodenburg, R.J., Schottmann, G., Schuelke, M., Romain, N., Haller, R.G., Ferrero, I., Haack, T.B., Taylor, R.W., Prokisch, H., Minczuk, M., Powell, C.A., Kopajtich, R., D'Souza, A.R., Rorbach, J., Kremer, L.S., Husain, R.A., Dallabona, C., Donnini, C., Alston, C.L., Griffin, H., Pyle, A., Chinnery, P.F., Strom, T.M., Meitinger, T., Rodenburg, R.J., Schottmann, G., Schuelke, M., Romain, N., Haller, R.G., Ferrero, I., Haack, T.B., Taylor, R.W., Prokisch, H., and Minczuk, M.

Abstract

Contains fulltext : 154074.pdf (Publisher’s version ) (Open Access), Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations in either the mitochondrial or nuclear genome, represents a rapidly growing group of human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants in TRMT5 (tRNA methyltransferase 5). TRMT5 encodes a mitochondrial protein with strong homology to members of the class I-like methyltransferase superfamily. Both affected individuals presented with lactic acidosis and evidence of multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, although the clinical presentation of the two affected subjects was remarkably different; one presented in childhood with failure to thrive and hypertrophic cardiomyopathy, and the other was an adult with a life-long history of exercise intolerance. Mutations in TRMT5 were associated with the hypomodification of a guanosine residue at position 37 (G37) of mitochondrial tRNA; this hypomodification was particularly prominent in skeletal muscle. Deficiency of the G37 modification was also detected in human cells subjected to TRMT5 RNAi. The pathogenicity of the detected variants was further confirmed in a heterologous yeast model and by the rescue of the molecular phenotype after re-expression of wild-type TRMT5 cDNA in cells derived from the affected individuals. Our study highlights the importance of post-transcriptional modification of mitochondrial tRNAs for faithful mitochondrial function.

Published
2015

17. The \epsilon small ball Drop Property

Author

Donnini, C. and Martellotti, Anna

Subjects
Drop Property, stream, small ball property, symmetrically compact set, intrinsic core
Published
2009

22. FOG1 and FOG2 genes, required for the transcriptional activation of glucose-repressible genes of Kluyveromyces lactis, are homologous to GAL83 and SNF1 of saccharomyces cerevisiae

Author

Goffrini, P., Ficarelli, A., Donnini, C., Tiziana Lodi, Puglisi, P. P., and Ferrero, I.

Subjects
Base Sequence, Transcription, Genetic, Genetic Complementation Test, Molecular Sequence Data, General Medicine, DNA, Saccharomyces cerevisiae, Protein Serine-Threonine Kinases, Fungal Proteins, Kluyveromyces, Glucose, Gene Expression Regulation, Fungal, Sequence Homology, Nucleic Acid, Mutation, Genetics, Amino Acid Sequence
Abstract

The fog1 and fog2 mutants of the yeast Kluyveromyces lactis were identified by inability to grow on a number of both fermentable and non-fermentable carbon sources. Genetic and physiological evidences suggest a role for FOG1 and FOG2 in the regulation of glucose-repressible gene expression in response to a glucose limitation. The regulatory effect appears to be at the transcriptional level, at least for beta-galactosidase. Both genes have been cloned by complementation and sequenced. FOG1 is a unique gene homologous to GAL83, SIP1 and SIP2, a family of regulatory genes affecting glucose repression of the GAL system in Saccharomyces cerevisiae. However, major differences exist between fog1 and gal83 mutants. FOG2 is structurally and functionally homologous to SNF1 of S. cerevisiae and shares with SNF1 a role also in sporulation.

Published
1996

23. Poster Session 4: Friday 9 December 2011, 14:00-18:00 * Location: Poster Area

Author

Wang, M., primary, Yan, G., additional, Yue, W., additional, Siu, C., additional, Tse, H., additional, Perperidis, A., additional, Cusack, D., additional, White, A., additional, Macgillivray, T., additional, Mcdicken, W., additional, Anderson, T., additional, Ryabov, V., additional, Shurupov, V., additional, Suslova, T., additional, Markov, V., additional, Elmstedt, N., additional, Ferm Widlund, K., additional, Lind, B., additional, Brodin, L.-A., additional, Westgren, M., additional, Mantovani, F., additional, Barbieri, A., additional, Bursi, F., additional, Valenti, C., additional, Quaglia, M., additional, Modena, M., additional, Peluso, D., additional, Muraru, D., additional, Dal Bianco, L., additional, Beraldo, M., additional, Solda', E., additional, Tuveri, M., additional, Cucchini, U., additional, Al Mamary, A., additional, Badano, L., additional, Iliceto, S., additional, Goncalves, A., additional, Almeria, C., additional, Marcos-Alberca, P., additional, Feltes, G., additional, Hernandez-Antolin, R., additional, Rodriguez, H., additional, Maroto, L., additional, Silva Cardoso, J., additional, Macaya, C., additional, Zamorano, J., additional, Squarciotta, S., additional, Innocenti, F., additional, Guzzo, A., additional, Bianchi, S., additional, Lazzeretti, D., additional, De Villa, E., additional, Vicidomini, S., additional, Del Taglia, B., additional, Donnini, C., additional, Pini, R., additional, Mennie, C., additional, Salmasi, A. M., additional, Kutyifa, V., additional, Nagy, V., additional, Edes, E., additional, Apor, A., additional, Merkely, B., additional, Nyrnes, S., additional, Lovstakken, L., additional, Torp, H., additional, Haugen, B., additional, Said, K., additional, Shehata, A., additional, Ashour, Z., additional, El-Tobgy, S., additional, Cameli, M., additional, Bigio, E., additional, Lisi, M., additional, Righini, F., additional, Franchi, F., additional, Scolletta, S., additional, Mondillo, S., additional, Gayat, E., additional, Weinert, L., additional, Yodwut, C., additional, Mor-Avi, V., additional, Lang, R., additional, Hrynchyshyn, N., additional, Kachenoura, N., additional, Diebold, B., additional, Khedim, R., additional, Senesi, M., additional, Redheuil, A., additional, Mousseaux, E., additional, Perdrix, L., additional, Yurdakul, S., additional, Erdemir, V., additional, Tayyareci, Y., additional, Memic, K., additional, Yildirimturk, O., additional, Aytekin, V., additional, Gurel, M., additional, Aytekin, S., additional, Gargani, L., additional, Fernandez Cimadevilla, C., additional, La Falce, S., additional, Landi, P., additional, Picano, E., additional, Sicari, R., additional, Smedsrud, M. K., additional, Gravning, J., additional, Eek, C., additional, Morkrid, L., additional, Skulstad, H., additional, Aaberge, L., additional, Bendz, B., additional, Kjekshus, J., additional, Edvardsen, T., additional, Bajraktari, G., additional, Hyseni, V., additional, Morina, B., additional, Batalli, A., additional, Tafarshiku, R., additional, Olloni, R., additional, Henein, M., additional, Mjolstad, O., additional, Snare, S., additional, Folkvord, L., additional, Helland, F., additional, Haraldseth, O., additional, Grimsmo, A., additional, Berry, M., additional, Zaghden, O., additional, Nahum, J., additional, Macron, L., additional, Lairez, O., additional, Damy, T., additional, Bensaid, A., additional, Dubois Rande, J., additional, Gueret, P., additional, Lim, P., additional, Nciri, N., additional, Issaoui, Z., additional, Tlili, C., additional, Wanes, I., additional, Foudhil, H., additional, Dachraoui, F., additional, Grapsa, J., additional, Dawson, D., additional, Nihoyannopoulos, P., additional, Gianturco, L., additional, Turiel, M., additional, Atzeni, F., additional, Sarzi-Puttini, P., additional, Stella, D., additional, Donato, L., additional, Tomasoni, L., additional, Jung, P., additional, Mueller, M., additional, Huber, T., additional, Sevilmis, G., additional, Kroetz, F., additional, Sohn, H., additional, Panoulas, V., additional, Bratsas, A., additional, Raso, R., additional, Tartarisco, G., additional, Pioggia, G., additional, Gargiulo, P., additional, Petretta, M., additional, Cuocolo, A., additional, Prastaro, M., additional, D'amore, C., additional, Vassallo, E., additional, Savarese, G., additional, Marciano, C., additional, Paolillo, S., additional, Perrone Filardi, P., additional, Aggeli, C., additional, Felekos, I., additional, Roussakis, G., additional, Poulidakis, E., additional, Pietri, P., additional, Toutouzas, K., additional, Stefanadis, C., additional, Kaladaridis, A., additional, Skaltsiotis, I., additional, Kottis, G., additional, Bramos, D., additional, Takos, D., additional, Matthaios, I., additional, Agrios, I., additional, Papadopoulou, E., additional, Moulopoulos, S., additional, Toumanidis, S., additional, Carrilho-Ferreira, P., additional, Cortez-Dias, N., additional, Jorge, C., additional, Silva, D., additional, Silva Marques, J., additional, Placido, R., additional, Santos, L., additional, Ribeiro, S., additional, Fiuza, M., additional, Pinto, F., additional, Stoickov, V., additional, Ilic, S., additional, Deljanin Ilic, M., additional, Kim, W., additional, Woo, J., additional, Bae, J., additional, Kim, K., additional, Descalzo, M., additional, Rodriguez, J., additional, Moral, S., additional, Otaegui, I., additional, Mahia, P., additional, Garcia Del Blanco, L., additional, Gonzalez Alujas, T., additional, Figueras, J., additional, Evangelista, A., additional, Garcia-Dorado, D., additional, Takeuchi, M., additional, Kaku, K., additional, Otani, K., additional, Iwataki, M., additional, Kuwaki, H., additional, Haruki, N., additional, Yoshitani, H., additional, Otsuji, Y., additional, Kukucka, M., additional, Pasic, M., additional, Unbehaun, A., additional, Dreysse, S., additional, Mladenow, A., additional, Kuppe, H., additional, Hetzer, R., additional, Rajamannan, N., additional, Tanrikulu, A., additional, Kristiansson, L., additional, Gustafsson, S., additional, Lindmark, K., additional, Henein, M. Y., additional, Evdoridis, C., additional, Stougiannos, P., additional, Thomopoulos, M., additional, Fosteris, M., additional, Spanos, P., additional, Sionis, G., additional, Giatsios, D., additional, Paschalis, A., additional, Sakellaris, C., additional, Trikas, A., additional, Yong, Z. Y., additional, Boerlage-Van Dijk, K., additional, Koch, K., additional, Vis, M., additional, Bouma, B., additional, Piek, J., additional, Baan, J., additional, Abid, L., additional, Frikha, Z., additional, Makni, K., additional, Maazoun, N., additional, Abid, D., additional, Hentati, M., additional, Kammoun, S., additional, Barbier, P., additional, Staron, A., additional, Cefalu', C., additional, Berna, G., additional, Gripari, P., additional, Andreini, D., additional, Pontone, G., additional, Pepi, M., additional, Ring, L., additional, Rana, B., additional, Ho, S., additional, Wells, F., additional, Dogan, A., additional, Karaca, O., additional, Guler, G., additional, Guler, E., additional, Gunes, H., additional, Alizade, E., additional, Agus, H., additional, Gol, G., additional, Esen, O., additional, Esen, A., additional, Turkmen, M., additional, Agricola, E., additional, Ingallina, G., additional, Ancona, M., additional, Maggio, S., additional, Slavich, M., additional, Tufaro, V., additional, Oppizzi, M., additional, Margonato, A., additional, Orsborne, C., additional, Irwin, B., additional, Pearce, K., additional, Ray, S., additional, Garcia Alonso, C., additional, Vallejo, N., additional, Labata, C., additional, Lopez Ayerbe, J., additional, Teis, A., additional, Ferrer, E., additional, Nunez Aragon, R., additional, Gual, F., additional, Pedro Botet, M., additional, Bayes Genis, A., additional, Santos, C. M., additional, Carvalho, M., additional, Andrade, M., additional, Dores, H., additional, Madeira, S., additional, Cardoso, G., additional, Ventosa, A., additional, Aguiar, C., additional, Ribeiras, R., additional, Mendes, M., additional, Petrovic, M., additional, Milasinovic, G., additional, Vujisic-Tesic, B., additional, Nedeljkovic, I., additional, Zamaklar-Trifunovic, D., additional, Petrovic, I., additional, Draganic, G., additional, Banovic, M., additional, Boricic, M., additional, Villarraga, H., additional, Molini-Griggs Bs, C., additional, Silen-Rivera Bs, P., additional, Payne Mph Ms, B., additional, Koshino Md Phd, Y., additional, Hsiao Md, J., additional, Monivas Palomero, V., additional, Mingo Santos, S., additional, Mitroi, C., additional, Garcia Lunar, I., additional, Garcia Pavia, P., additional, Castro Urda, V., additional, Toquero, J., additional, Gonzalez Mirelis, J., additional, Cavero Gibanel, M., additional, Fernandez Lozano, I., additional, Oko-Sarnowska, Z., additional, Wachowiak-Baszynska, H., additional, Katarzynska-Szymanska, A., additional, Trojnarska, O., additional, Grajek, S., additional, Bellavia, D., additional, Pellikka, P., additional, Dispenzieri, A., additional, Oh, J. K., additional, Polizzi, V., additional, Pitrolo, F., additional, Musumeci, F., additional, Miller, F., additional, Ancona, R., additional, Comenale Pinto, S., additional, Caso, P., additional, Severino, S., additional, Cavallaro, C., additional, Vecchione, F., additional, D'onofrio, A., additional, Calabro', R., additional, Maceira Gonzalez, A. M., additional, Ripoll, C., additional, Cosin-Sales, J., additional, Igual, B., additional, Salazar, J., additional, Belloch, V., additional, Cosin-Aguilar, J., additional, Pinamonti, B., additional, Iorio, A., additional, Bobbo, M., additional, Merlo, M., additional, Barbati, G., additional, Massa, L., additional, Faganello, G., additional, Di Lenarda, A., additional, Sinagra, G. F., additional, Ishizu, T., additional, Seo, Y., additional, Enomoto, M., additional, Kameda, Y., additional, Ishibashi, N., additional, Inoue, M., additional, Aonuma, K., additional, Saleh, A., additional, Matsumori, A., additional, Negm, H., additional, Fouad, H., additional, Onsy, A., additional, Hamodraka, E., additional, Paraskevaidis, I., additional, Kallistratos, M., additional, Lezos, V., additional, Zamfir, T., additional, Manetos, C., additional, Mavropoulos, D., additional, Poulimenos, L., additional, Kremastinos, D., additional, Manolis, A., additional, Citro, R., additional, Rigo, F., additional, Ciampi, Q., additional, Patella, M., additional, Provenza, G., additional, Zito, C., additional, Tagliamonte, E., additional, Rotondi, F., additional, Silvestri, F., additional, Bossone, E., additional, Beltran Correas, P., additional, Gutierrez Landaluce, C., additional, Gomez Bueno, M., additional, Segovia Cubero, J., additional, Beladan, C., additional, Matei, F., additional, Popescu, B., additional, Calin, A., additional, Rosca, M., additional, Boanta, A., additional, Enache, R., additional, Savu, O., additional, Usurelu, C., additional, Ginghina, C., additional, Ciobanu, A. O., additional, Dulgheru, R., additional, Magda, S., additional, Dragoi, R., additional, Florescu, M., additional, Vinereanu, D., additional, Robalo Martins, S., additional, Calisto, C., additional, Goncalves, S., additional, Barrigoto, I., additional, Carvalho De Sousa, J., additional, Almeida, A., additional, Nunes Diogo, A., additional, Sargento, L., additional, Satendra, M., additional, Sousa, C., additional, Lousada, N., additional, Palma Reis, R., additional, Schiano Lomoriello, V., additional, Esposito, R., additional, Santoro, A., additional, Raia, R., additional, Schiattarella, P., additional, Dores, E., additional, Galderisi, M., additional, Mansencal, N., additional, Caille, V., additional, Dupland, A., additional, Perrot, S., additional, Bouferrache, K., additional, Vieillard-Baron, A., additional, Jouffroy, R., additional, Moceri, P., additional, Liodakis, E., additional, Gatzoulis, M., additional, Li, W., additional, Dimopoulos, K., additional, Sadron, M., additional, Seguela, P. E., additional, Arnaudis, B., additional, Dulac, Y., additional, Cognet, T., additional, Acar, P., additional, Shiina, Y., additional, Uemura, H., additional, Kupczynska, K., additional, Kasprzak, J., additional, Michalski, B., additional, Lipiec, P., additional, Carvalho, V., additional, Almeida, A. M. G., additional, David, C., additional, Marques, J., additional, Ferreira, P., additional, Amaro, M., additional, Costa, P., additional, Diogo, A., additional, Tritakis, V., additional, Ikonomidis, I., additional, Lekakis, J., additional, Tzortzis, S., additional, Kadoglou, N., additional, Papadakis, I., additional, Trivilou, P., additional, Koukoulis, C., additional, Anastasiou-Nana, M., additional, Bombardini, T., additional, Gherardi, S., additional, Arpesella, G., additional, Maccherini, M., additional, Serra, W., additional, Magnani, G., additional, Del Bene, R., additional, Pasanisi, E., additional, Startari, U., additional, Panchetti, L., additional, Rossi, A., additional, Piacenti, M., additional, Morales, M., additional, El Hajjaji, I., additional, El Mahmoud, R., additional, Digne, F., additional, Dubourg, O., additional, Agoston, G., additional, Moreo, A., additional, Pratali, L., additional, Moggi Pignone, A., additional, Pavellini, A., additional, Doveri, M., additional, Musca, F., additional, Varga, A., additional, Faita, F., additional, Rimoldi, S., additional, Sartori, C., additional, Alleman, Y., additional, Salinas Salmon, C., additional, Villena, M., additional, Scherrer, U., additional, Baptista, R., additional, Serra, S., additional, Castro, G., additional, Martins, R., additional, Salvador, M., additional, Monteiro, P., additional, Silva, J., additional, Szudi, L., additional, Temesvary, A., additional, Fekete, B., additional, Kassai, I., additional, Szekely, L., additional, Abdel Moneim, S. S., additional, Martinez, M., additional, Mankad, S., additional, Bernier, M., additional, Dhoble, A., additional, Chandrasekaran, K., additional, Oh, J., additional, Mulvagh, S., additional, Hong, G. R., additional, Kim, J. Y., additional, Lee, S. C., additional, Choi, S. H., additional, Sohn, I. S., additional, Seo, H. S., additional, Choi, J. H., additional, Cho, K. I., additional, Yoon, S. J., additional, Lim, S. J., additional, Wejner-Mik, P., additional, Kusmierek, J., additional, Plachcinska, A., additional, Szuminski, R., additional, Stoebe, S., additional, Tarr, A., additional, Trache, T., additional, Hagendorff, A., additional, Jenkins, C., additional, Kuhl, H., additional, Nesser, H., additional, Marwick, T., additional, Franke, A., additional, Niel, J., additional, Sugeng, L., additional, Soderberg, S., additional, Lindqvist, P., additional, Necas, J., additional, Kovalova, S., additional, Saha, S. K., additional, Kiotsekoglou, A., additional, Toole, R., additional, Govind, S., additional, Gopal, A., additional, Amzulescu, M.-S., additional, Florian, A., additional, Bogaert, J., additional, Janssens, S., additional, Voigt, J., additional, Parisi, V., additional, Losi, M., additional, Parrella, L., additional, Contaldi, C., additional, Chiacchio, E., additional, Caputi, A., additional, Scatteia, A., additional, Buonauro, A., additional, Betocchi, S., additional, Rimbas, R., additional, Mihaila, S., additional, Caputo, M., additional, Navarri, R., additional, Innelli, P., additional, Urselli, R., additional, Capati, E., additional, Ballo, P., additional, Furiozzi, F., additional, Favilli, R., additional, Lindquist, R., additional, Miller, A., additional, Reece, C., additional, O'leary, P., additional, Cetta, F., additional, Eidem, B. W., additional, Cikes, M., additional, Gasparovic, H., additional, Bijnens, B., additional, Velagic, V., additional, Kopjar, T., additional, Biocina, B., additional, Milicic, D., additional, Ta-Shma, A., additional, Nir, A., additional, Perles, Z., additional, Gavri, S., additional, Golender, J., additional, Rein, A., additional, Pinnacchio, G., additional, Barone, L., additional, Battipaglia, I., additional, Cosenza, A., additional, Marinaccio, L., additional, Coviello, I., additional, Scalone, G., additional, Sestito, A., additional, Lanza, G., additional, Crea, F., additional, Cakal, S., additional, Eroglu, E., additional, Ozkan, B., additional, Kulahcioglu, S., additional, Bulut, M., additional, Koyuncu, A., additional, Acar, G., additional, Alici, G., additional, Dundar, C., additional, Labombarda, F., additional, Zangl, E., additional, Pellissier, A., additional, Bougle, D., additional, Maragnes, P., additional, Milliez, P., additional, Saloux, E., additional, Lagoudakou, S., additional, Gialafos, E., additional, Tsokanis, A., additional, Nagy, A., additional, Kovats, T., additional, Vago, H., additional, Toth, A., additional, Sax, B., additional, Kovacs, A., additional, Elnoamany, M. F., additional, Badran, H., additional, Abdelfattah, I., additional, Khalil, T., additional, Salama, M., additional, Butz, T., additional, Taubenberger, C., additional, Thangarajah, F., additional, Meissner, A., additional, Van Bracht, M., additional, Prull, M., additional, Yeni, H., additional, Plehn, G., additional, Trappe, H., additional, Rydman, R., additional, Bone, D., additional, Alam, M., additional, Caidahl, K., additional, Larsen, F., additional, Gasior, Z., additional, Tabor, Z., additional, Sengupta, P., additional, Liu, D., additional, Niemann, M., additional, Hu, K., additional, Herrmann, S., additional, Stoerk, S., additional, Morbach, C., additional, Knop, S., additional, Voelker, W., additional, Ertl, G., additional, Weidemann, F., additional, Cawley, P., additional, Hamilton-Craig, C., additional, Mitsumori, L., additional, Maki, J., additional, Otto, C., additional, Astrom Aneq, M., additional, Nylander, E., additional, Ebbers, T., additional, Engvall, J., additional, Arvanitis, P., additional, Flachskampf, F., additional, Duvernoy, O., additional, De Torres Alba, F., additional, Valbuena Lopez, S., additional, Guzman Martinez, G., additional, Gomez De Diego, J., additional, Rey Blas, J., additional, Armada Romero, E., additional, Lopez De Sa, E., additional, Moreno Yanguela, M., additional, Lopez Sendon, J., additional, Trikalinos, N., additional, Siasos, G., additional, Aggeli, A., additional, Tomaszewski, A., additional, Kutarski, A., additional, Tomaszewski, M., additional, Vriz, O., additional, Driussi, C., additional, Bettio, M., additional, Pavan, D., additional, Antonini Canterin, F., additional, Doltra Magarolas, A., additional, Fernandez-Armenta, J., additional, Silva, E., additional, Solanes, N., additional, Rigol, M., additional, Barcelo, A., additional, Mont, L., additional, Berruezo, A., additional, Brugada, J., additional, Sitges, M., additional, Ciciarello, F. L., additional, Mandolesi, S., additional, Fedele, F., additional, Agati, L., additional, Marceca, A., additional, Rhee, S., additional, Shin, S., additional, Kim, S., additional, Yun, K., additional, Yoo, N., additional, Kim, N., additional, Oh, S., additional, Jeong, J., additional, and Alabdulkarim, N., additional

Published
2011
Full Text
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24. Poster Session 3: Friday 9 December 2011, 08:30-12:30 * Location: Poster Area

Author

Kenny, C., primary, Adhya, S., additional, Dworakowski, R., additional, Brickham, B., additional, Maccarthy, P., additional, Monaghan, M., additional, Guzzo, A., additional, Innocenti, F., additional, Vicidomini, S., additional, Lazzeretti, D., additional, Squarciotta, S., additional, De Villa, E., additional, Donnini, C., additional, Bulletti, F., additional, Guerrini, E., additional, Pini, R., additional, Bendjelid, K., additional, Viale, J., additional, Duperret, S., additional, Piriou, V., additional, Jacques, D., additional, Shahgaldi, K., additional, Silva, C., additional, Pedro, F., additional, Deister, L., additional, Brodin, L.-A., additional, Sahlen, A., additional, Manouras, A., additional, Winter, R., additional, Berjeb, N., additional, Cimadevilla, C., additional, Dreyfus, J., additional, Cueff, C., additional, Malanca, M., additional, Chiampan, A., additional, Vahanian, A., additional, Messika-Zeitoun, D., additional, Muraru, D., additional, Peluso, D., additional, Dal Bianco, L., additional, Beraldo, M., additional, Solda', E., additional, Tuveri, M., additional, Cucchini, U., additional, Al Mamary, A., additional, Badano, L., additional, Iliceto, S., additional, Almuntaser, I., additional, King, G., additional, Norris, S., additional, Daly, C., additional, Ellis, E., additional, Murphy, R., additional, Erdei, T., additional, Denes, M., additional, Kardos, A., additional, Foldesi, C., additional, Temesvari, A., additional, Lengyel, M., additional, Bouzas Mosquera, A., additional, Broullon, F., additional, Alvarez-Garcia, N., additional, Peteiro, J., additional, Barge-Caballero, G., additional, Lopez-Perez, M., additional, Lopez-Sainz, A., additional, Castro-Beiras, A., additional, Luotolahti, M., additional, Luotolahti, H., additional, Kantola, I., additional, Viikari, J., additional, Andersen, M., additional, Ersboell, M., additional, Bro-Jeppesen, J., additional, Gustafsson, F., additional, Koeber, L., additional, Hassager, C., additional, Moller, J., additional, Coisne, D., additional, Diakov, C., additional, Vallet, F., additional, Lequeux, B., additional, Blouin, P., additional, Christiaens, L., additional, Esposito, R., additional, Santoro, A., additional, Schiano Lomoriello, V., additional, Raia, R., additional, Santoro, C., additional, De Simone, G., additional, Galderisi, M., additional, Abdula, G., additional, Kosmala, W., additional, Szczepanik-Osadnik, H., additional, Przewlocka-Kosmala, M., additional, Mysiak, A., additional, O' Moore-Sullivan, T., additional, Marwick, T., additional, Tan, Y. T., additional, Wenzelburger, F., additional, Leyva, F., additional, Sanderson, J., additional, Pichler, P., additional, Syeda, B., additional, Hoefer, P., additional, Zuckermann, A., additional, Binder, T., additional, Fijalkowski, M., additional, Koprowski, A., additional, Galaska, R., additional, Blaut, K., additional, Sworczak, K., additional, Rynkiewicz, A., additional, Lee, S., additional, Kim, W., additional, Jung, L., additional, Yun, H., additional, Song, M., additional, Ko, J., additional, Khalifa, E. A., additional, Szymanski, P., additional, Lipczynska, M., additional, Klisieiwcz, A., additional, Hoffman, P., additional, Jorge, C., additional, Silva Marques, J., additional, Robalo Martins, S., additional, Calisto, C., additional, Mieiro, M., additional, Vieira, S., additional, Correia, M., additional, Carvalho De Sousa, J., additional, Almeida, A., additional, Nunes Diogo, A., additional, Park, C., additional, March, K., additional, Tillin, T., additional, Mayet, J., additional, Chaturvedi, N., additional, Hughes, A., additional, Di Bello, V., additional, Giannini, C., additional, Delle Donne, M., additional, De Sanctis, F., additional, Spontoni, P., additional, Cucco, C., additional, Corciu, A., additional, Grigoratos, C., additional, Bogazzi, F., additional, Balbarini, A., additional, Enescu, O., additional, Suran, B., additional, Florescu, M., additional, Cinteza, M., additional, Vinereanu, D., additional, Higuchi, Y., additional, Iwakura, K., additional, Okamura, A., additional, Date, M., additional, Fujii, K., additional, Cortez-Dias, N., additional, Silva, D., additional, Carrilho-Ferreira, P., additional, Magalhaes, A., additional, Ribeiro, S., additional, Goncalves, S., additional, Fiuza, M., additional, Pinto, F., additional, Placido, R., additional, Bordalo, A., additional, Grzywocz, P., additional, Mizia-Stec, K., additional, Chudek, J., additional, Gasior, Z., additional, Maceira Gonzalez, A. 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P., additional, Anderson, M., additional, Burgess, M., additional, Bergenzaun, L., additional, Chew, M., additional, Ohlin, H., additional, Gjerdalen, G. F., additional, Hisdal, J., additional, Solberg, E., additional, Andersen, T., additional, Radunovic, Z., additional, Steine, K., additional, Rutz, T., additional, Kuehn, A., additional, Petzuch, K., additional, Pekala, M., additional, Elmenhorst, J., additional, Fratz, S., additional, Mueller, J., additional, Hager, A., additional, Hess, J., additional, Vogt, M., additional, Van Der Linde, D., additional, Van De Laar, I., additional, Wessels, M., additional, Bekkers, J., additional, Moelker, A., additional, Tanghe, H., additional, Van Kooten, F., additional, Oldenburg, R., additional, Bertoli-Avella, A., additional, Roos-Hesselink, J., additional, Cresti, A., additional, Fontani, L., additional, Calabria, P., additional, Capati, E., additional, Severi, S., additional, Lynch, M., additional, Saraf, S., additional, Sandler, B., additional, Yoon, S., additional, Kim, S., additional, Ko, C., additional, Ryu, S., additional, Byun, Y., additional, Seo, H., additional, Ciampi, Q., additional, Rigo, F., additional, Pratali, L., additional, Gherardi, S., additional, Villari, B., additional, Picano, E., additional, Sicari, R., additional, Celutkiene, J., additional, Zakarkaite, D., additional, Skorniakov, V., additional, Zvironaite, V., additional, Grabauskiene, V., additional, Sinicyna, J., additional, Gruodyte, G., additional, Janonyte, K., additional, Laucevicius, A., additional, O'driscoll, J., additional, Schmid, K., additional, Marciniak, A., additional, Saha, A., additional, Gupta, S., additional, Smith, R., additional, Sharma, R., additional, Alvarez Garcia, N., additional, Prada, O., additional, Rodriguez Vilela, A., additional, Barge Caballero, G., additional, Lopez Perez, M., additional, Lopez Sainz, A., additional, Castro Beiras, A., additional, Kochanowski, J., additional, Scislo, P., additional, Piatkowski, R., additional, Grabowski, M., additional, Marchel, M., additional, Roik, M., additional, Kosior, D., additional, Opolski, G., additional, Van De Heyning, C. M., additional, Mahjoub, H., additional, Clausen, H., additional, Basaggianis, C., additional, Newton, J., additional, Del Pasqua, A., additional, Carotti, A., additional, Di Carlo, D., additional, Cetrano, E., additional, Toscano, A., additional, Iacobelli, R., additional, Esposito, C., additional, Chinali, M., additional, Pongiglione, G., additional, Rinelli, G., additional, Larsson, M., additional, Bjallmark, A., additional, Caidahl, K., additional, Brodin, L., additional, Gao, H., additional, Lugiez, M., additional, Guivier, C., additional, Rieu, R., additional, D'hooge, J., additional, Hang, G., additional, Guerin, C., additional, Menard, M., additional, Voigt, J.-U., additional, Dungu, J., additional, Campos, G., additional, Jaffarulla, R., additional, Gomes-Pereira, S., additional, Sutaria, N., additional, Baker, C., additional, Nihoyannopoulos, P., additional, Bellamy, M., additional, Harries, D., additional, Walker, N., additional, Pearson, P., additional, Reiken, J., additional, Batteson, J., additional, Kamdar, R., additional, Murgatroyd, F., additional, D'andrea, A., additional, Riegler, L., additional, Scarafile, R., additional, Pezzullo, E., additional, Salerno, G., additional, Bossone, E., additional, Limongelli, G., additional, Russo, M., additional, Pacileo, G., additional, Calabro', R., additional, Kang, Y., additional, Cui, J., additional, Chen, H., additional, Pan, C., additional, Shu, X., additional, Kiotsekoglou, A., additional, Saha, S., additional, Toole, R., additional, Govind, S., additional, Gopal, A., additional, Crispi, F., additional, Bijnens, B., additional, Sepulveda-Swatson, E., additional, Rojas-Benavente, J., additional, Dominguez, J., additional, Illa, M., additional, Eixarch, E., additional, Sitges, M., additional, Gratacos, E., additional, Prinz, C., additional, Faludi, R., additional, Walker, A., additional, Amzulescu, M., additional, Uejima, T., additional, Fraser, A., additional, Voigt, J., additional, Esmaeilzadeh, M., additional, Maleki, M., additional, Amin, A., additional, Vakilian, F., additional, Noohi, F., additional, Ojaghi Haghighi, Z., additional, Nakhostin Davari, P., additional, Bakhshandeh Abkenar, H., additional, Rimbas, R., additional, Dulgheru, R., additional, Margulescu, A., additional, D' Asaro, M., additional, Mizzon, C., additional, Parisi, F., additional, Jung, B.-C., additional, Lee, B.-Y., additional, Kang, H.-J., additional, Kim, M., additional, Kim, Y., additional, Cho, D., additional, Park, S., additional, Hong, S., additional, Lim, D., additional, Shim, W., additional, Bellsham-Revell, H., additional, Tibby, S., additional, Bell, A. J., additional, Miller, O. I., additional, Greil, G., additional, Simpson, J. M., additional, Providencia, R. A., additional, Trigo, J., additional, Botelho, A., additional, Gomes, P., additional, Seca, L., additional, Barra, S., additional, Faustino, A., additional, Costa, G., additional, Quintal, N., additional, Leitao-Marques, A., additional, Nestaas, E., additional, Stoylen, A., additional, Fugelseth, D., additional, Mornos, C., additional, Ionac, A., additional, Petrescu, L., additional, Cozma, D., additional, Dragulescu, D., additional, Mornos, A., additional, Pescariu, S., additional, Fontana, A., additional, Abbate, M., additional, Cazzaniga, M., additional, Giannattasio, C., additional, Trocino, G., additional, Laser, K., additional, Faber, L., additional, Fischer, M., additional, Koerperich, H., additional, Kececioglu, D., additional, Elnoamany, M. F., additional, Dawood, A., additional, Elhabashy, M., additional, Khalil, Y., additional, Piriou, N., additional, Warin-Fresse, K., additional, Caza, M., additional, Fau, G., additional, Crochet, D., additional, Xhabija, N., additional, Allajbeu, I., additional, Petrela, E., additional, Heba, M., additional, Barreiro Perez, M., additional, Martin Fernandez, M., additional, Renilla Gonzalez, A., additional, Florez Munoz, J., additional, Fernandez Cimadevilla, O., additional, Alvarez Pichel, I., additional, Velasco Alonso, E., additional, Leon Duran, D., additional, Benito Martin, E., additional, Secades Gonzalez, S., additional, Gargani, L., additional, Pang, P., additional, Davis, E., additional, Schumacher, A., additional, Silva Ferreira, A., additional, Bettencourt, N., additional, Matos, P., additional, Oliveira, L., additional, Cosin-Sales, J., additional, Lopez Lereu, M., additional, Monmeneu, J., additional, Estornell, J., additional, Tsverava, M., additional, Tsverava, D., additional, Varela, A., additional, Salagianni, M., additional, Galani, I., additional, Andreakos, E., additional, Davos, C., additional, Ikonomidis, I., additional, Lekakis, J., additional, Tritakis, V., additional, Kadoglou, N., additional, Papadakis, J., additional, Trivilou, P., additional, Tzortzis, S., additional, Koukoulis, C., additional, Paraskevaidis, I., additional, Anastasiou-Nana, M., additional, Kim, G., additional, Youn, H., additional, Ibrahimi, P., additional, Bajraktari, G., additional, Jashari, F., additional, Ahmeti, A., additional, Poniku, A., additional, Haliti, E., additional, Henein, M., additional, Pezo Nikolic, B., additional, Jurin, H., additional, Lovric, D., additional, Baricevic, Z., additional, Ivanac Vranesic, I., additional, Lovric Bencic, M., additional, Ernst, A., additional, and Separovic Hanzevacki, J., additional

Published
2011
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37. Relevance of perceived childhood neglect, 5HTT gene variants and hypothalamus–pituitary–adrenal axis dysregulation to substance abuse susceptibilityThe views expressed herein are those of the authors and do not necessarily reflect the views of the United Nations.How to Cite this Article: Gerra G, Zaimovic A, Castaldini L, Garofano L, Manfredini M, Somaini L, Leonardi C, Gerra ML, Donnini C. 2010. Relevance of Perceived Childhood Neglect, 5HTT Gene Variants and Hypothalamus–Pituitary–Adrenal Axis Dysregulation to Substance Abuse Susceptibility. Am J Med Genet Part B 153B:715–722.

Author

Gerra, G., Zaimovic, A., Castaldini, L., Garofano, L., Manfredini, M., Somaini, L., Leonardi, C., Gerra, M.L., and Donnini, C.

Abstract

The hypotheses of 1 gene × environment interaction in the susceptibility to experiment with drugs and 2 hypothalamus–pituitary–adrenal HPA axis involvement in mediating the effects of early adverse experiences and gene variants affecting serotonin function on substance abuse vulnerability were tested by investigating in 187 healthy adolescents the possible relevance of 5HTT “S” polymorphism, childhood parental neglect reported retrospectively and HPA axis function to the susceptibility to experiment with illicit drugs. Higher frequency of the 5HTT SS genotype seems to be associated with an increased susceptibility to use illegal psychotropic drugs among the adolescents. At the same time, reduced maternal care perception was found to represent a key intermediate factor of the association between SS polymorphism and drug use, suggesting that genetic factors and parental behavior concur to drug use susceptibility. Our results also confirm the relationship between basal plasma levels of cortisol and adrenocorticotropic hormone ACTH on the one hand, and retrospective measures of neglect during childhood: the higher the mother and father neglect CECAQ scores, the higher the plasma levels of the two HPA hormones. Such positive relationship has been proved to be particularly effective and important when associated to the Sallele, both in homozygote and heterozygote individuals. However, when tested together with genotype and parental neglect, the effect of HPA hormones such as cortisol and ACTH was not found to improve significantly the explanatory power of the risk model. © 2009 WileyLiss, Inc.

Published
2010
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38. Perceived parenting behavior in the childhood of cocaine users: Relationship with genotype and personality traitsPlease cite this article as follows: Gerra G, Zaimovic A, Garofano L, Ciusa F, Moi G, Avanzini P, Talarico E, Gardini F, Brambilla F, Manfredini M, Donnini C. 2007. Perceived Parenting Behavior in the Childhood of Cocaine Users: Relationship With Genotype and Personality Traits. Am J Med Genet Part B 144B:52–57.

Author

Gerra, G., Zaimovic, A., Garofano, L., Ciusa, F., Moi, G., Avanzini, P., Talarico, E., Gardini, F., Brambilla, F., Manfredini, M., and Donnini, C.

Abstract

Low parental care during childhood, a pattern characteristic of an “affectionless control” rearing style was frequently reported in the history of addicted individuals. Parents' childrearing regimes and children's genetic predispositions, with their own behavioral characteristics, have been seen to be closely interwoven, probably affecting children's development and addictive behavior susceptibility. In the present study, parents care perception, aggressive personality traits, and genotype (serotonin transporter promoter gene—5‐HTTLPR) have been investigated in cocaine users and healthy control subjects. PBI scores (maternal and paternal care) were lower and BDHI scores (aggressiveness) higher in cocaine users in comparison with controls and significant differences in the perception of either paternal or maternal care were observed between cocaine users and non‐users. The short‐short (SS) genotype frequency was significantly higher among cocaine users compared with control subjects (P = 0.04). Logistic regression proves that persons bearing the SS genotype have a risk of becoming cocaine user almost three times higher than those having the LL genotype. Estimations of the effects of other factors potentially affecting the risk of being cocaine addicted clearly prove the significant impact of aggressiveness: the highest the score, the highest the risk of becoming cocaine user. Moreover, paternal and maternal care perception significantly improve the fit of the model (the log likelihood decreases passing from −105.9 to −89.8, LR test = 32.17, P‐value = 0.0000). Each unit increase in the PBI score yields a significant 12% and 10% decrease of the risk of becoming cocaine user, respectively for paternal and maternal care. Interestingly, once controlled for the PBI score, the relative risk associated to the SS genotype drops strikingly and becomes no longer statistically significant. On the whole, our preliminary data suggest that the association between 5‐HT transporter polymorphism and psycho‐stimulant use may be mediated by mother–child relationship and parental attachment perception, both being environmental and genetic factors involved in the proneness to substance use disorders, particularly in aggressive‐antisocial individuals. © 2006 Wiley‐Liss, Inc.

Published
2007
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39. Germination conditions that require mitochondrial function in Saccharomyces cerevisiae: utilization of acetate and galactose

Author

Donnini, C, Artoni, N, and Marmiroli, N

Abstract

Ascospores of Saccharomyces cerevisiae inherited at least one functioning mitochondrion as shown by their ability to germinate on nonfermentable carbon sources. After transfer to germination medium, the optical density of the culture at 600 nm decreased (phase-dark), reaching a minimum within 60 min in the presence of glucose and within 180 min after transfer to acetate medium; thereafter, the optical density increased. Budding cells first appeared 90 min after transfer to glucose and 150 min after transfer to acetate. Augmentation of respiratory components, respiratory activity, and macromolecular synthesis (except for DNA synthesis) started at about the same time on glucose and on acetate, although the highest values for all these processes were reached in the presence of glucose. Mitochondrial inhibitors which affected germination on acetate did not arrest germination on glucose. However, mitochondrial activity was required for germination on galactose in a strain carrying the mutated allele imp1 of the nucleomitochondrion-connecting gene IMP1.

Published
1986
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46. Coalitional fairness in interim differential information economies

Author

Marialaura Pesce, Maria Gabriella Graziano, Chiara Donnini, Donnini, C., Graziano, MARIA GABRIELLA, and Pesce, Marialaura

Subjects
Microeconomics, Economics and Econometrics, Information asymmetry, Equity (economics), Differential information, Interim, Economics, TheoryofComputation_GENERAL, General Business, Management and Accounting, Mathematical economics, Public finance
Abstract

In this paper we propose a concept of coalitional fair allocation in order to solve the tension that may exist between efficiency and envy-freeness when agents are asymmetrically informed and the equity of allocations is evaluated at the interim stage.

Published
2012

47. Dysregulated responses to emotions among abstinent heroin users: Correlation with childhood neglect and addiction severity

Author

Mario Amore, Matteo Manfredini, Maria Addolorata Saracino, Maria Augusta Raggi, Claudia Donnini, C. Leonardi, Elena Cortese, Lorenzo Somaini, Gilberto Gerra, Gerra, G, Somaini, L., Manfredini, M., Raggi, M.A., Saracino, M.A., Amore, M., Leonardi, C., Cortese, E., and Donnini, C.

Subjects
Adult, Male, Child abuse, medicine.medical_specialty, Mood Disorder, Adolescent, Hydrocortisone, media_common.quotation_subject, Vulnerability, Addiction, Poison control, Affect (psychology), Severity of Illness Index, Arousal, Young Adult, Adrenocorticotropic Hormone, Emotional response, Surveys and Questionnaires, medicine, Surveys and Questionnaire, Humans, Child Abuse, Child, Psychiatry, Biological Psychiatry, International Affective Picture System, media_common, Psychiatric Status Rating Scales, Pharmacology, Analysis of Variance, Heroin Dependence, Mood Disorders, Infant, Psychiatric Status Rating Scale, Adverse childhood experience, Child, Preschool, Linear Models, HPA axi, Linear Model, Anxiety, medicine.symptom, Psychology, State-Trait Anxiety Inventory, Human, Clinical psychology
Abstract

The aim of this paper was to investigate the subjective responses of abstinent heroin users to both neutral and negative stimuli and the related hypothalamus-pituitary-adrenal reactions to emotional experience in relationship to their perception of childhood adverse experiences. Thirty male abstinent heroin dependents were included in the study. Emotional responses and childhood neglect perception were measured utilizing the State-Trait Anxiety Inventory Y-1 and the Child Experience of Care and Abuse Questionnaire. Neutral and unpleasant pictures selected from the International Affective Picture System and the Self-Assessment Manikin procedure have been used to determine ratings of pleasure and arousal. These ratings were compared with normative values obtained from healthy volunteers used as control. Blood samples were collected before and after the experimental sessions to determine both adrenocorticotropic hormone and cortisol plasma levels. Basal anxiety scores, cortisol and adrenocorticotropic hormone levels were higher in abstinent heroin users than in controls. Tests showed that anxiety scores did not change in controls after the vision of neutral slides, whilst they did in abstinent heroin addicts, increasing significantly; and increased less significantly after the unpleasant task, in comparison to controls. Abstinent heroin users showed significantly higher levels of parent antipathy and childhood emotional neglect perception than controls for both the father and the mother. Plasma adrenocorticotropic hormone and cortisol levels did not significantly increase after unpleasant slide set viewing among addicted individuals, because of the significantly higher basal levels characterizing the addicted subjects in comparison with controls. Multiple regression correlation showed a significant relationship between childhood neglect perception, arousal reaction, impaired hypothalamus-pituitary-adrenal axis response and addiction severity. Early adverse experiences seem to affect the entire interaction between hyper-arousal, reduced hormonal response to stress and addiction severity. Our findings, although obtained in a small number of subjects, indicate a significant link between the perception of parental style/care/support during childhood and the ability to cope with stressful emotional stimuli in adulthood and addiction severity. © 2013 Elsevier Inc.

Published
2014

48. Childhood neglect and parental care perception in cocaine addicts: Relation with psychiatric symptoms and biological correlates

Author

Grazia Dell'Agnello, Matteo Manfredini, Lorenzo Somaini, Gilberto Gerra, A. Zaimovic, Elena Cortese, C. Leonardi, Maria Augusta Raggi, Claudia Donnini, Francesca Petracca, Vincenzo Caretti, G. Gerra, C. Leonardi, E. Cortese, A. Zaimovic, G. Dell’Agnello, M. Manfredini, L. Somaini, F. Petracca, V. Caretti, M.A. Raggi, C. Donnini, Gerra, G, Leonardi, C, Cortese, E, Zaimovic, A, Dell'Agnello, G, Manfredini, M, Somaini, L, Petracca, F, Caretti, V, Raggi, MA, and Donnini, C

Subjects
Adult, Male, medicine.medical_specialty, endocrine system, Adolescent, Hydrocortisone, Cognitive Neuroscience, media_common.quotation_subject, Poison control, Hostility, Adrenocorticotropic hormone, PSYCHIATRIC SYMPTOMS, Neglect, PROLACTIN (PRL), Cocaine-Related Disorders, Young Adult, Behavioral Neuroscience, Adrenocorticotropic Hormone, Surveys and Questionnaires, Electrochemistry, medicine, Humans, Child Abuse, Child, Psychiatry, Chromatography, High Pressure Liquid, Childhood neglect, parental care, cocaine addiction, Retrospective Studies, media_common, Parenting, Mental Disorders, Addiction, Psychiatric assessment, Homovanillic Acid, medicine.disease, Prolactin, Neuropsychology and Physiological Psychology, HOMOVANILLIC ACID (HVA), NEGLECT, Child, Preschool, Regression Analysis, Female, medicine.symptom, Addictive behavior, Psychology, COCAINE, Anxiety disorder, hormones, hormone substitutes, and hormone antagonists, Personality
Abstract

Childhood neglect and poor child–parent relationships have been reported to increase substance use disorders susceptibility. Stressful environmental factors, including emotional neglect, could affect individual personality traits and mental health, possibly inducing stable changes in hypothalamic–pituitary–adrenal (HPA) axis and brain mono-amine function, in turn involved in addictive behavior vulnerability. Therefore, we decided to investigate homovanillic (HVA) and prolactin (PRL) plasma levels, as expression of possible changes in dopamine function, ACTH and cortisol plasma levels, as measures of HPA axis function, and concomitant psychiatric symptoms profile in abstinent cocaine addicts, in relationship to their childhood history of neglect and poor parental care perception. Methods: Fifty abstinent cocaine dependent patients, and 44 normal controls, matched for age and sex, were submitted to a detailed psychiatric assessment (DSM IV criteria). All patients and controls completed the Symptoms Check List-90 (SCL-90) and the Buss Durkee Hostility Inventory (BDHI), to evaluate psychiatric symptoms frequency and aggressiveness levels. The Childhood Experience of Care and Abuse-Questionnaire (CECA-Q) and Parental Bonding Instrument (PBI) have been used to retrospectively investigate parent–child relationships. Blood samples were collected to determine HVA, PRL, ACTH and cortisol basal plasma levels. Results: Cocaine addicted individuals in general showed significantly lower HVA, and higher PRL, ACTH and cortisol basal levels respect to controls. In particular, neuroendocrine changes characterized cocaine addicts with childhood history of neglect and low perception of parental care. Obsessive–compulsive, depression and aggressiveness symptoms have been found related to poor parenting, inversely associated to HVA levels and directly associated to PRL, ACTH and cortisol levels. Conclusions: These findings suggest the possibility that childhood experience of neglect and poor parent–child attachment may partially contribute to a complex neurobiological derangement including HPA axis and dopamine system dysfunctions, playing a crucial role in addictive and affective disorders susceptibility.

Published
2009

49. Adrenocorticotropic hormone and cortisol plasma levels directly correlate with childhood neglect and depression measures in addicted patients

Author

Elena Cortese, Amir Zaimovic, Francesca Petracca, Vincenzo Caretti, Matteo Manfredini, Claudio Donnini, Grazia Dell'Agnello, Cristina Baroni, C. Leonardi, Lorenzo Somaini, Gilberto Gerra, GERRA G, LEONARDI C, CORTESE E, ZAIMOVIC A, DELL'AGNELLO G, MANFREDINI M, SOMAINI L, PETRACCA F, CARETTI V, BARONI C, and DONNINI C

Subjects
Adult, Male, endocrine system, medicine.medical_specialty, Hypothalamo-Hypophyseal System, Hydrocortisone, media_common.quotation_subject, Statistics as Topic, Medicine (miscellaneous), Poison control, Pituitary-Adrenal System, Adrenocorticotropic hormone, Heroin, Neglect, Life Change Events, Stress Disorders, Post-Traumatic, Cocaine-Related Disorders, Adrenocorticotropic Hormone, Risk Factors, childhood neglect, depression, adrenocorticotropic hormone, Injury prevention, medicine, Humans, Child Abuse, Psychiatry, Child, Depression (differential diagnoses), media_common, Pharmacology, Depressive Disorder, Heroin Dependence, Addiction, medicine.disease, Object Attachment, Substance abuse, Psychiatry and Mental health, Female, Psychology, Arousal, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Clinical psychology
Abstract

Hypothalamic-pituitary-adrenal (HPA) axis dysfunction has been reported to be involved in vulnerability to alcohol and drug dependence in humans, possibly underlying both addictive behaviour and depression susceptibility. The aim of the present study was to investigate the possible interactions between childhood adverse experiences, depressive symptoms and HPA axis function in addicted patients, in comparison with healthy control. Eighty-two abstinent heroin or cocaine dependent patients and 44 normal controls, matched for age and sex, completed the symptoms Check List-90 (SCL-90), measuring depressive symptoms, and the Childhood Experience of Care and Abuse Questionnaire. Blood samples were collected to determine adrenocorticotropic hormone (ACTH) and cortisol basal plasma levels at 8:00 and 8:30 a.m. Addicted individuals showed significantly higher neglect and depression scores and ACTH-cortisol plasma levels respect to control subjects. Depression scores at SCL-90 in addicted patients positively correlated with plasma ACTH and cortisol values. In turn, plasma ACTH levels were directly associated with childhood neglect measures, reaching statistical significance with 'mother-neglect' scores. Plasma cortisol levels were related to 'father antipathy' among cocaine addicts. These findings suggest the possibility that childhood experience of neglect and poor parent-child attachment may have a persistent effect on HPA axis function as an adult, partially contributing, together with genetic factors and other environmental conditions, to both depressive traits and substance abuse neurobiological vulnerability.

Published
2008

50. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Author

Vamsi K. Mootha, Pietro Strisciuglio, Emmanuelle Sarzi, Claudia Donnini, Massimo Zeviani, Sarah E. Calvo, Valeria Tiranti, Antonella Spinazzola, Erika Fernandez-Vizarra, Agnès Rötig, Carlo Viscomi, Pio D'Adamo, Salvatore DiMauro, René Massimiliano Marsano, Alicia Chan, Iliana Ferrero, Rossella Parini, Hans Weiher, Franco Carrara, Paolo Gasparini, Spinazzola, A, Viscomi, C, FERNANDEZ VIZARRA, E, Carrara, F, D'Adamo, ADAMO PIO, Calvo, S, Marsano, Rm, Donnini, C, Weiher, H, Strisciuglio, P, Parini, R, Sarzi, E, Chan, A, Dimauro, S, Rtig, A, Gasparini, Paolo, Ferrero, I, Mootha, Vk, Tiranti, V, Zeviani, M., Antonella, Spinazzola, Carlo, Viscomi, Erika Fernandez, Vizarra, Franco, Carrara, Pio, D'Adamo, Sarah, Calvo, René Massimiliano, Marsano, Claudia, Donnini, Hans, Weiher, Strisciuglio, Pietro, Rossella, Parini, Emmanuelle, Sarzi, Alicia, Chan, Salvatore, Dimauro, Agnes, Rötig, Paolo, Gasparini, Iliana, Ferrero, Vamsi K., Mootha, Valeria, Tiranti, and Massimo, Zeviani

Subjects
Male, MPV17, Mitochondrial DNA, SUCLA2, Cells, Molecular Sequence Data, Fluorescent Antibody Technique, Mitochondrion, Biology, DGUOK, DNA, Mitochondrial, Mitochondrial depletion, Chromosomes, Mice, Genetics, medicine, Amino Acid Sequence, Animals, Cells, Cultured, Chromosomes, Human, Pair 2, Cloning, Molecular, Female, Humans, Intracellular Membranes, Liver Diseases, Membrane Proteins, Mitochondria, Pedigree, Syndrome, Mutation, infantile hepatic mitochondrial DNA depletion, Inner mitochondrial membrane, Cultured, Molecular, DNA, medicine.disease, Molecular biology, Mitochondrial, Pair 2, Mitochondrial DNA depletion syndrome, mitochondrial (mt) DNA depletion syndromes, Human, Cloning
Abstract

The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral1 (OMIM 251880). Known mutant genes, including TK2 (ref. 2), SUCLA2 (ref. 3), DGUOK (ref. 4) and POLG5,6, account for only a fraction of MDDS cases7. We found a new locus for hepatocerebral MDDS on chromosome 2p21-23 and prioritized the genes on this locus using a new integrative genomics strategy. One of the top-scoring candidates was the human ortholog of the mouse kidney disease gene Mpv17 (ref. 8). We found disease-segregating mutations in three families with hepatocerebral MDDS and demonstrated that, contrary to the alleged peroxisomal localization of the MPV17 gene product9, MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17 –/– mice.

Published
2006

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