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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti, Beatrice; Verrigni, Daniela; Nasca, Alessia; Di Nottia, Michela; Leone, Daniela; Torraco, Alessandra; Rizza, Teresa; Bellacchio, Emanuele; Legati, Andrea; Palermo, Concetta; Marchet, Silvia; Lamperti, Costanza; Novelli, Antonio; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Pane, Marika; Ghezzi, Daniele; Carrozzo, Rosalba.
Afiliación
  • Berti B; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.
  • Verrigni D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Di Nottia M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
  • Leone D; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.
  • Torraco A; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.
  • Rizza T; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
  • Bellacchio E; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
  • Legati A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Palermo C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Marchet S; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.
  • Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Novelli A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Mercuri EM; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Bertini ES; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.
  • Pane M; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy.
  • Ghezzi D; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.
  • Carrozzo R; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.
Int J Mol Sci ; 25(14)2024 Jul 16.
Article en En | MEDLINE | ID: mdl-39063023
ABSTRACT
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic-dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dinaminas / Mutación / Cardiomiopatías Límite: Female / Humans / Infant Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dinaminas / Mutación / Cardiomiopatías Límite: Female / Humans / Infant Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza