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3 results on '"Valentina Codemo"'

1. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Author

Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, and Elena Pegoraro

Subjects
RYR1-related myopathies, Central core disease, Multi-minicore disease, Genotype–phenotype correlations, Neuromuscular disorder, Protein modelling, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and minicores) for RYR1 mutation. At least one RYR1 mutation was identified in 69 of them and these patients were further studied. Clinical and histopathological features were collected. Clinical phenotype was highly heterogeneous ranging from asymptomatic or paucisymptomatic hyperCKemia to severe muscle weakness and skeletal deformity with loss of ambulation. Sixty-eight RYR1 mutations, generally missense, were identified, of which 16 were novel. The combined analysis of the clinical presentation, disease progression and the structural bioinformatic analyses of RYR1 allowed to associate some phenotypes to mutations in specific domains. In addition, this study highlighted the structural bioinformatics potential in the prediction of the pathogenicity of RYR1 mutations. Further improvement in the comprehension of genotype–phenotype relationship of core myopathies can be expected in the next future: the actual lack of the human RyR1 crystal structure paired with the presence of large intrinsically disordered regions in RyR1, and the frequent presence of more than one RYR1 mutation in core myopathy patients, require designing novel investigation strategies to completely address RyR1 mutation effect.

Published
2022
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2. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

Author

Lucia Morandi, Adele D'Amico, Eugenio Mercuri, Claudio Bruno, Marina Mora, Fabiana Fattori, Lorenzo Maggi, Lucio Santoro, Valentina Codemo, Margherita Verardo, Chiara Fiorillo, Lucia Ruggiero, Michela Catteruccia, Cinzia Bragato, Enrico Bertini, Giorgio Tasca, Marika Pane, Angela Berardinelli, Elena Pegoraro, Michela, Catteruccia, Fabiana, Fattori, Valentina, Codemo, Ruggiero, Lucia, Lorenzo, Maggi, Giorgio, Tasca, Chiara, Fiorillo, Marika, Pane, Angela, Berardinelli, Margherita, Verardo, Cinzia, Bragato, Marina, Mora, Lucia, Morandi, Claudio, Bruno, Santoro, Lucio, Elena, Pegoraro, Eugenio, Mercuri, Enrico, Bertini, Adele, D?amico, Catteruccia, M, Fattori, F, Codemo, V, Ruggiero, L, Maggi, L, Tasca, G, Fiorillo, C, Pane, M, Berardinelli, A, Verardo, M, Bragato, C, Mora, M, Morandi, L, Bruno, C, Santoro, L, Pegoraro, E, Mercuri, E, Bertini, E, and D'Amico, A

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biology, Thigh, medicine.disease_cause, Dynamin II, Muscle MRI, Article, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Centronuclear myopathy, Child, Muscle, Skeletal, Autosomal dominant centronuclear myopathy, Genetics (clinical), Dynamin, Mutation, Mosaicism, DNM2, Middle Aged, medicine.disease, musculoskeletal system, Magnetic Resonance Imaging, Somatic mosaicism, 'Necklace' fiber, medicine.anatomical_structure, Phenotype, Neurology, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Contracture, medicine.symptom, ‘Necklace’ fibers, Human, Myopathies, Structural, Congenital
Abstract

Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up. of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease. (C) 2013 Elsevier B.V. All rights reserved

Published
2013

3. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

Author

Nicol C. Voermans, Valeria Guglielmi, Elena Pegoraro, Antonio Novelli, C. Scotton, Domenico De Grandis, Bruno Dallapiccola, Alessandra Ferlini, Ernő Zádor, Marcella Neri, Arie Oosterhof, Gaetano Vattemi, Valentina Codemo, Francesca Gualandi, Baziel G.M. van Engelen, Giuliano Tomelleri, Magdolna Kósa, Toin H. van Kuppevelt, Enza Maria Valente, and Matteo Marini

Subjects
Protein isoform, Adult, Male, medicine.medical_specialty, ATP2A1 gene, Genotype, Myotonia Congenita, Endocrinology, Diabetes and Metabolism, DCN MP - Plasticity and memory, Sarcoplasm, Muscle Fibers, Skeletal, Biology, Biochemistry, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Tissue Culture Techniques, Exon, Endocrinology, Internal medicine, Genetics, medicine, Brody syndrome, Humans, Amino Acid Sequence, Myopathy, Molecular Biology, Gene, Brody disease, Cells, Cultured, Endoplasmic reticulum, Alternative splicing, Wild type, Sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1), SERCA1, Infant, Exons, Tissue engineering and pathology [NCMLS 3], Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Gene Expression Regulation, Child, Preschool, Mutation, Female, medicine.symptom
Abstract

Item does not contain fulltext Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS). We performed a detailed study of SERCA1 protein expression in muscle of patients with BD and BS, and evaluated the alternative splicing of SERCA1 in primary cultures of normal human muscle and in infant muscle. SERCA1 reactivity was observed in type 2 muscle fibers of patients with and without ATP2A1 mutations and staining intensity was similar in patients and controls. Immunoblot analysis showed a significant reduction of SERCA1 band in muscle of BD patients. In addition we demonstrated that the wild type and mutated protein exhibits similar solubility properties and that RIPA buffer improves the recovery of the wild type and mutated SERCA1 protein. We found that SERCA1b, the SERCA1 neonatal form, is the main protein isoform expressed in cultured human muscle fibers and infant muscle. Finally, we identified two novel heterozygous mutations within exon 3 of the ATP2A1 gene from a previously described patient with BD.

Published
2013

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