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8 results on '"Pozzi, Elisa"'

1. SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

Author

Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo, Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, and Brusco, Alfredo

Subjects
ataxia, method, sca
Abstract

Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified. Next-generation sequencing still does not allow efficient detection of these repeats. Here, we show the efficacy of a novel, rapid, and cost-effective method to identify and size pathogenic expansions in SCA1-3, 6, and 7 and recognize large alleles or interruptions without a second-level test. Twenty-five healthy controls and 33 expansion carriers were analyzed: alleles migrated consistently in different PCRs/capillary runs, and homozygous subjects were always distinguishable from heterozygous carriers of both common and large (>100 repeats) pathogenic CAG expansions. Repeat number could be calculated counting the number of peaks, except for the largest SCA2 and SCA7 alleles. Interruptions in SCA1 were always visible. Overall, our method allows a simpler, cost-effective, and sensibly faster SCA diagnostic protocol compared to the standard technique and to the still unadapted next-generation sequencing.

Published
2018

2. LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION

Author

Giorgio, Elisa, Favaro, Livio, LO BUONO, Nicola, Mancini, Cecilia, Giovanna Vaula, 3, Pietro Cortelli, 4, Sabina Capellari, 4, Paola Mandich, 5, Niklas Dahl, 6, Atle Melberg, 7, Pozzi, Elisa, DI GREGORIO, Eleonora, Cavalieri, Simona, Pierre Labauge, 9, Eleonore Eymard Pierre, 9, Harshvardhan Rolyan 10, Odile Boespflug Tanguy, 9, 11, 13, Laura Gasparini 14, Quasar Saleem Padiath 10, Brussino, Alessandro, Brusco, Alfredo, and 8

Published
2014

3. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA

Author

Mancini, Cecilia, Nassani2, S., Guo3, Y., Giorgio, Elisa, Calcia, Alessandro, Liu4, X., DI GREGORIO, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Brussino, Alessandro, Xie4, Y., Wang3, F., Tian3, L., Chen4, W., Nmezi6, B., Padiath6, Q. S., Jiang4, H., 7, Kyttala8, A., Pizio2, N. R., Hakonarson3, H., 10, 9, and Brusco, Alfredo

Published
2014

4. LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH

Author

Elisa, Savin1, DI GREGORIO, Eleonora, 2, Franco Fiocchi, 1, Valeria Giorgia Naretto, 1, Elisa Biamino, 3, Elga Belligni, 3, Mancini, Cecilia, Cavalieri, Simona, Pozzi, Elisa, Giorgio, Elisa, Eva Colombo, 1, Flavia Talarico, 1, Patrizia Pappi, 1, Enrico Grosso, 1, Margherita Cirillo Silengo, 3, Ferrero, Giovanni Battista, and Brusco, Alfredo

Published
2014

8. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Author

Brendan J. Battersby, Luisa Iommarini, Alfredo Brusco, Eriola Hoxha, Emilia Turco, Stefano Geuna, Giuseppe Gasparre, Cecilia Mancini, Francesca Montarolo, Valentina Nicolò, Simona Cavalieri, Giorgio Casari, Diana Iulia Gondor Morosini, Uwe Richter, Luisa Muratori, Elena Donetti, Alessandro Brussino, Elisa Pozzi, Francesca Maltecca, Francesca Arnaboldi, Evelise Riberi, Enza Ferrero, Fiorella Altruda, Claudia Cagnoli, Filippo Tempia, Roberta Parolisi, Marta Ferrero, Giulia Ronchi, Elisa Giorgio, Eleonora Di Gregorio, Anna Maria Porcelli, Mancini, Cecilia, Hoxha, Eriola, Iommarini, Luisa, Brussino, Alessandro, Richter, Uwe, Montarolo, Francesca, Cagnoli, Claudia, Parolisi, Roberta, Gondor Morosini, Diana Iulia, Nicolò, Valentina, Maltecca, Francesca, Muratori, Luisa, Ronchi, Giulia, Geuna, Stefano, Arnaboldi, Francesca, Donetti, Elena, Giorgio, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Casari, Giorgio, Altruda, Fiorella, Turco, Emilia, Gasparre, Giuseppe, Battersby, Brendan J., Porcelli, Anna Maria, Ferrero, Enza, Brusco, Alfredo, Tempia, Filippo, and Morosini, Diana Iulia Gondor

Subjects
0301 basic medicine, Ataxia, Mutant, Mutation, Missense, Biology, medicine.disease_cause, Proteotoxicity, lcsh:RC321-571, Mitochondrial Proteins, 03 medical and health sciences, Purkinje Cells, SCA28, 0302 clinical medicine, ATP-Dependent Proteases, Mitochondrial dynamic, medicine, Missense mutation, Animals, Spinocerebellar Ataxias, Gene Knock-In Techniques, Allele, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, AFG3L2, 030304 developmental biology, Membrane Potential, Mitochondrial, 0303 health sciences, Mutation, Cerebellar ataxia, Mouse knock-in, medicine.disease, Molecular biology, Phenotype, Mitochondria, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Neurology, SCA28 AFG3L2 Mouse knock-in Mitochondrial dynamics Proteotoxicity, Spinocerebellar ataxia, Mitochondrial dynamics, ATPases Associated with Diverse Cellular Activities, Female, medicine.symptom, 030217 neurology & neurosurgery
Abstract

Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major component of the mitochondrial m-AAA protease. However, little is known of the underlying pathogenetic mechanisms or how to treat patients with SCA28. Currently available Afg3l2 mutant mice harbour deletions that lead to severe, early-onset neurological phenotypes that do not faithfully reproduce the late-onset and slowly progressing SCA28 phenotype. Here we describe production and detailed analysis of a new knock-in murine model harbouring an Afg3l2 allele carrying the p.Met665Arg patient-derived mutation. Heterozygous mutant mice developed normally but signs of ataxia were detectable by beam test at 18 months. Cerebellar pathology was negative; electrophysiological analysis showed increased spontaneous firing in Purkinje cells from heterozygous mutants with respect to wild-type controls, although not statistically significant. As homozygous mutants died perinatally with evidence of cardiac atrophy, for each genotype we generated mouse embryonic fibroblasts (MEFs) to investigate mitochondrial function. MEFs from mutant mice showed altered mitochondrial bioenergetics, with decreased basal oxygen consumption rate, ATP synthesis and mitochondrial membrane potential. Mitochondrial network formation and morphology was also altered, in line with greatly reduced expression of Opa1 fusogenic protein L-isoforms. The mitochondrial alterations observed in MEFs were also detected in cerebella of 18-month-old heterozygous mutants, suggesting they may be a hallmark of disease. Pharmacological inhibition of de novo mitochondrial protein translation with chloramphenicol caused reversal of mitochondrial morphology in homozygous mutant MEFs, supporting the relevance of mitochondrial proteotoxicity for SCA28 pathogenesis and therapy development.

Published
2019

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