Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE.

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy / De Giorgio, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Contin, Manuela; D'Angelo, Roberto; D'Errico, Antonietta; Gramegna, Laura Ludovica; Lodi, Raffaele; Maresca, Alessandra; Mohamed, Susan; Morelli, Maria Cristina; Papa, Valentina; Tonon, Caterina; Tugnoli, Vitaliano; Carelli, Valerio; D'Alessandro, Roberto; Pinna, Antonio Daniele. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - STAMPA. - 80:3(2016), pp. 448-55-455. [10.1002/ana.24724]

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

DE GIORGIO, ROBERTO;PIRONI, LORIS;BOSCHETTI, ELISA;CAPORALI, LEONARDO;CAPRISTO, MARIANTONIETTA;CENACCHI, GIOVANNA;CONTIN, MANUELA MARIA ANTONIA;D'ANGELO, ROBERTO;D'ERRICO, ANTONIETTA;GRAMEGNA, LAURA LUDOVICA;LODI, RAFFAELE;MARESCA, ALESSANDRA;MOHAMED, SUSAN;PAPA, VALENTINA;TONON, CATERINA;TUGNOLI, VITALIANO;CARELLI, VALERIO;PINNA, ANTONIO DANIELE
2016

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE.
2016
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy / De Giorgio, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Contin, Manuela; D'Angelo, Roberto; D'Errico, Antonietta; Gramegna, Laura Ludovica; Lodi, Raffaele; Maresca, Alessandra; Mohamed, Susan; Morelli, Maria Cristina; Papa, Valentina; Tonon, Caterina; Tugnoli, Vitaliano; Carelli, Valerio; D'Alessandro, Roberto; Pinna, Antonio Daniele. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - STAMPA. - 80:3(2016), pp. 448-55-455. [10.1002/ana.24724]
De Giorgio, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Contin, Manuela; D'Angelo, Roberto; D'Errico, Antonietta; Gramegna, Laura Ludovica; Lodi, Raffaele; Maresca, Alessandra; Mohamed, Susan; Morelli, Maria Cristina; Papa, Valentina; Tonon, Caterina; Tugnoli, Vitaliano; Carelli, Valerio; D'Alessandro, Roberto; Pinna, Antonio Daniele
File in questo prodotto:
File Dimensione Formato  
DeGiorgio_2016_AM.pdf

accesso aperto

Tipo: Postprint
Licenza: Licenza per Accesso Aperto. Altra tipologia di licenza compatibile con Open Access
Dimensione 1.43 MB
Formato Adobe PDF
1.43 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/562318
Citazioni
  • ???jsp.display-item.citation.pmc??? 39
  • Scopus 79
  • ???jsp.display-item.citation.isi??? 61
social impact