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12 results on '"Caporali, Leonardo"'

1. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

Author

Pettenuzzo, Ilaria, Carli, Sara, Sánchez-Cuesta, Ana, Isidori, Federica, Montanari, Francesca, Grippa, Mina, Lanzoni, Giulia, Ambrosetti, Irene, Di Pisa, Veronica, Cordelli, Duccio Maria, Mondardini, Maria Cristina, Pippucci, Tommaso, Ragni, Luca, Cenacchi, Giovanna, Costa, Roberta, Lima, Mario, Capristo, Maria Antonietta, Tropeano, Concetta Valentina, Caporali, Leonardo, Carelli, Valerio, Brunelli, Elena, Maffei, Monica, Ahmed Sheikhmaye, Hodman, Fetta, Anna, Brea-Calvo, Gloria, and Garone, Caterina

Published
2024
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3. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients

Author

Amore, Giulia, Romagnoli, Martina, Carbonelli, Michele, Cascavilla, Maria Lucia, De Negri, Anna Maria, Carta, Arturo, Parisi, Vincenzo, Di Renzo, Antonio, Schiavi, Costantino, Lenzetti, Chiara, Zenesini, Corrado, Ormanbekova, Danara, Palombo, Flavia, Fiorini, Claudio, Caporali, Leonardo, Carelli, Valerio, Barboni, Piero, and La Morgia, Chiara

Published
2024
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4. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

Author

Brugger, Melanie, Lauri, Antonella, Zhen, Yan, Gramegna, Laura L., Zott, Benedikt, Sekulić, Nikolina, Fasano, Giulia, Kopajtich, Robert, Cordeddu, Viviana, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Paradisi, Graziamaria, Zanni, Ginevra, Vasco, Gessica, Carrozzo, Rosalba, Palombo, Flavia, Tonon, Caterina, Lodi, Raffaele, La Morgia, Chiara, Arelin, Maria, Blechschmidt, Cristiane, Finck, Tom, Sørensen, Vigdis, Kreiser, Kornelia, Strobl-Wildemann, Gertrud, Daum, Hagit, Michaelson-Cohen, Rachel, Ziccardi, Lucia, Zampino, Giuseppe, Prokisch, Holger, Abou Jamra, Rami, Fiorini, Claudio, Arzberger, Thomas, Winkelmann, Juliane, Caporali, Leonardo, Carelli, Valerio, Stenmark, Harald, Tartaglia, Marco, and Wagner, Matias

Published
2024
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5. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Author

Aleo, Serena Jasmine, Del Dotto, Valentina, Romagnoli, Martina, Fiorini, Claudio, Capirossi, Giada, Peron, Camille, Maresca, Alessandra, Caporali, Leonardo, Capristo, Mariantonietta, Tropeano, Concetta Valentina, Zanna, Claudia, Ross-Cisneros, Fred N., Sadun, Alfredo A., Pignataro, Maria Gemma, Giordano, Carla, Fasano, Chiara, Cavaliere, Andrea, Porcelli, Anna Maria, Tioli, Gaia, Musiani, Francesco, Catania, Alessia, Lamperti, Costanza, Marzoli, Stefania Bianchi, De Negri, Annamaria, Cascavilla, Maria Lucia, Battista, Marco, Barboni, Piero, Carbonelli, Michele, Amore, Giulia, La Morgia, Chiara, Smirnov, Dmitrii, Vasilescu, Catalina, Farzeen, Aiman, Blickhaeuser, Beryll, Prokisch, Holger, Priglinger, Claudia, Livonius, Bettina, Catarino, Claudia B., Klopstock, Thomas, Tiranti, Valeria, Carelli, Valerio, and Ghelli, Anna Maria

Published
2024
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7. New insights into idebenone therapy in relation to NQO1

Author

La Morgia, Chiara, primary, Aleo, Serena Jasmine, additional, Del Dotto, Valentina, additional, Romagnoli, Martina, additional, Fiorini, Claudio, additional, Capirossi, Giada, additional, Peron, Camille, additional, Maresca, Alessandra, additional, Caporali, Leonardo, additional, Capristo, Mariantonietta, additional, Tropeano, Concetta Valentina, additional, Zanna, Claudia, additional, Ross‐Cisneros, Fred, additional, Sadun, Alfredo A., additional, Pignataro, Maria Gemma, additional, Giordano, Carla, additional, Fasano, Chiara, additional, Porcelli, Anna Maria, additional, Tioli, Gaia, additional, Musiani, Francesco, additional, Catania, Alessia, additional, Lamperti, Costanza, additional, Marzoli, Stefania Bianchi, additional, De Negri, Annamaria, additional, Cascavilla, Maria Lucia, additional, Battista, Marco, additional, Barboni, Piero, additional, Carbonelli, Michele, additional, Amore, Giulia, additional, Smirnov, Dmitrii, additional, Vasilescu, Catalina, additional, Farzeen, Aiman, additional, Blickhäuser, Beryll, additional, Prokisch, Holger, additional, Catarino, Claudia, additional, Klopstock, Thomas, additional, Tiranti, Valeria, additional, Carelli, Valerio, additional, and Ghelli, Anna Maria, additional

Published
2024
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8. Genetic variants of NQO1 affect the expression and activity of the protein, which determines the efficacy of idebenone treatment in Leber's hereditary optic neuropathy

Author

Del Dotto, Valentina, Aleo, Serena J., Romagnoli, Martina, Fiorini, Claudio, Capirossi, Giada, Peron, Camille, Fasano, Chiara, Maresca, Alessandra, Caporali, Leonardo, Capristo, Mariantonietta, Tropeano, Concetta V., Zanna, Claudia, Porcelli, Anna M., Tioli, Gaia, Amore, Giulia, La Morgia, Chiara, Tiranti, Valeria, Carelli, Valerio, and Ghelli, Anna

Published
2024
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10. Recessive MECR pathogenic variants cause an LHONlike optic neuropathy.

Author

Fiorini, Claudio, Degiorgi, Andrea, Cascavilla, Maria Lucia, Tropeano, Concetta Valentina, La Morgia, Chiara, Battista, Marco, Ormanbekova, Danara, Palombo, Flavia, Carbonelli, Michele, Bandello, Francesco, Carelli, Valerio, Maresca, Alessandra, Barboni, Piero, Baruffini, Enrico, and Caporali, Leonardo

Abstract

Background Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes DNAJC30, NDUFS2 and MCAT. MCAT is part of mitochondrial fatty acid synthesis (mtFAS), as also MECR, the mitochondrial trans-2-enoyl-CoA reductase. MECR mutations lead to a recessive childhood-onset syndromic disorder with dystonia, optic atrophy and basal ganglia abnormalities. Methods We studied through whole exome sequencing two sisters affected by sudden and painless visual loss at young age, with partial recovery and persistent central scotoma. We modelled the candidate variant in yeast and studied mitochondrial dysfunction in yeast and fibroblasts. We tested protein lipoylation and cell response to oxidative stress in yeast. Results Both sisters carried a homozygous pathogenic variant in MECR (p.Arg258Trp). In yeast, the MECRR258W mutant showed an impaired oxidative growth, 30% reduction in oxygen consumption rate and 80% decrease in protein levels, pointing to structure destabilisation. Fibroblasts confirmed the reduced amount of MECR protein, but failed to reproduce the OXPHOS defect. Respiratory complexes assembly was normal. Finally, the yeast mutant lacked lipoylation of key metabolic enzymes and was more sensitive to H2O2 treatment. Lipoic Acid supplementation partially rescued the growth defect. Conclusion We report the first family with homozygous MECR variant causing an LHON-like optic neuropathy, which pairs the recent MCAT findings, reinforcing the impairment of mtFAS as novel pathogenic mechanism in LHON. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Recessive MECRpathogenic variants cause an LHON-like optic neuropathy

Author

Fiorini, Claudio, Degiorgi, Andrea, Cascavilla, Maria Lucia, Tropeano, Concetta Valentina, La Morgia, Chiara, Battista, Marco, Ormanbekova, Danara, Palombo, Flavia, Carbonelli, Michele, Bandello, Francesco, Carelli, Valerio, Maresca, Alessandra, Barboni, Piero, Baruffini, Enrico, and Caporali, Leonardo

Abstract

BackgroundLeber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes DNAJC30, NDUFS2and MCAT. MCAT is part of mitochondrial fatty acid synthesis (mtFAS), as also MECR, the mitochondrial trans-2-enoyl-CoA reductase. MECRmutations lead to a recessive childhood-onset syndromic disorder with dystonia, optic atrophy and basal ganglia abnormalities.MethodsWe studied through whole exome sequencing two sisters affected by sudden and painless visual loss at young age, with partial recovery and persistent central scotoma. We modelled the candidate variant in yeast and studied mitochondrial dysfunction in yeast and fibroblasts. We tested protein lipoylation and cell response to oxidative stress in yeast.ResultsBoth sisters carried a homozygous pathogenic variant in MECR(p.Arg258Trp). In yeast, the MECR-R258W mutant showed an impaired oxidative growth, 30% reduction in oxygen consumption rate and 80% decrease in protein levels, pointing to structure destabilisation. Fibroblasts confirmed the reduced amount of MECR protein, but failed to reproduce the OXPHOS defect. Respiratory complexes assembly was normal. Finally, the yeast mutant lacked lipoylation of key metabolic enzymes and was more sensitive to H2O2treatment. Lipoic Acid supplementation partially rescued the growth defect.ConclusionWe report the first family with homozygous MECR variant causing an LHON-like optic neuropathy, which pairs the recent MCAT findings, reinforcing the impairment of mtFAS as novel pathogenic mechanism in LHON.

Published
2024
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12. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction

Author

Pettenuzzo, Ilaria, Carli, Sara, Sánchez-Cuesta, Ana, Isidori, Federica, Montanari, Francesca, Grippa, Mina, Lanzoni, Giulia, Ambrosetti, Irene, Di Pisa, Veronica, Cordelli, Duccio Maria, Mondardini, Maria Cristina, Pippucci, Tommaso, Ragni, Luca, Cenacchi, Giovanna, Costa, Roberta, Lima, Mario, Capristo, Maria Antonietta, Tropeano, Concetta Valentina, Caporali, Leonardo, Carelli, Valerio, Brunelli, Elena, Maffei, Monica, Ahmed Sheikhmaye, Hodman, Fetta, Anna, Brea-Calvo, Gloria, and Garone, Caterina

Abstract

COQ7pathogenetic variants cause primary CoQ10deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10supplementation. Here, we report novel compound heterozygous variants in the COQ7gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation. Exome sequencing revealed compound heterozygous rare variants in the COQ7gene, c.613_617delGCCGGinsCAT (p.Ala205HisfsTer48) and c.403A>G (p.Met135Val). In silico analysis and functional in vitro studies confirmed the pathogenicity of the variants responsible for abolished activities of complexes I + III and II + III in muscle homogenate, severe decrease of CoQ10levels, and reduced basal and maximal respiration in patients’ fibroblasts. The first proband deceased at 14 months of age, whereas supplementation with a high dose of CoQ10(30 mg/kg/day) since the first days of life modified the clinical course in the second child, showing a recovery of milestones acquirement at the last follow-up (18 months of age). Our study expands the clinical spectrum of primary CoQ10deficiency due to COQ7gene defects and highlights the essential role of multidisciplinary and combined approaches for a timely diagnosis.

Published
2024
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