Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Roberto De Giorgio; Loris Pironi; Rita Rinaldi; Elisa Boschetti; Leonardo Caporali; Mariantonietta Capristo; Carlo Casali; Giovanna Cenacchi; Manuela Contin; Roberto D'Angelo; Antonietta D'Errico; Laura Ludovica Gramegna; Raffaele Lodi; Alessandra Maresca; Susan Mohamed; Maria Cristina Morelli; Valentina Papa; Caterina Tonon; Vitaliano Tugnoli; Valerio Carelli; Roberto D'Alessandro; Antonio Daniele Pinna

doi:10.1002/ana.24724

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Roberto De Giorgio, Loris Pironi, Rita Rinaldi, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Carlo Casali, Giovanna Cenacchi, Manuela Contin, Roberto D'Angelo, Antonietta D'Errico, Laura Ludovica Gramegna, Raffaele Lodi, Alessandra Maresca, Susan Mohamed, Maria Cristina Morelli, Valentina Papa, Caterina Tonon, Vitaliano Tugnoli, Valerio CarelliRoberto D'Alessandro, Antonio Daniele Pinna

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

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. Ann Neurol 2016;80:448–455.

Original language	English
Pages (from-to)	448-455
Number of pages	8
Journal	Annals of Neurology
Volume	80
Issue number	3
DOIs	https://doi.org/10.1002/ana.24724
Publication status	Published - Sep 1 2016

ASJC Scopus subject areas

Medicine(all)
Neurology
Clinical Neurology

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10.1002/ana.24724

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De Giorgio, R., Pironi, L., Rinaldi, R., Boschetti, E., Caporali, L., Capristo, M., Casali, C., Cenacchi, G., Contin, M., D'Angelo, R., D'Errico, A., Gramegna, L. L., Lodi, R., Maresca, A., Mohamed, S., Morelli, M. C., Papa, V., Tonon, C., Tugnoli, V., ... Pinna, A. D. (2016). Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Annals of Neurology, 80(3), 448-455. https://doi.org/10.1002/ana.24724

De Giorgio, R, Pironi, L, Rinaldi, R, Boschetti, E, Caporali, L , Capristo, M, Casali, C, Cenacchi, G, Contin, M, D'Angelo, R, D'Errico, A, Gramegna, LL, Lodi, R, Maresca, A , Mohamed, S, Morelli, MC, Papa, V, Tonon, C, Tugnoli, V, Carelli, V, D'Alessandro, R & Pinna, AD 2016, 'Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy', Annals of Neurology, vol. 80, no. 3, pp. 448-455. https://doi.org/10.1002/ana.24724

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title = "Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy",

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. Ann Neurol 2016;80:448–455.",

author = "{De Giorgio}, Roberto and Loris Pironi and Rita Rinaldi and Elisa Boschetti and Leonardo Caporali and Mariantonietta Capristo and Carlo Casali and Giovanna Cenacchi and Manuela Contin and Roberto D'Angelo and Antonietta D'Errico and Gramegna, {Laura Ludovica} and Raffaele Lodi and Alessandra Maresca and Susan Mohamed and Morelli, {Maria Cristina} and Valentina Papa and Caterina Tonon and Vitaliano Tugnoli and Valerio Carelli and Roberto D'Alessandro and Pinna, {Antonio Daniele}",

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AU - De Giorgio, Roberto

AU - Pironi, Loris

AU - Rinaldi, Rita

AU - Boschetti, Elisa

AU - Caporali, Leonardo

AU - Capristo, Mariantonietta

AU - Casali, Carlo

AU - Cenacchi, Giovanna

AU - Contin, Manuela

AU - D'Angelo, Roberto

AU - D'Errico, Antonietta

AU - Gramegna, Laura Ludovica

AU - Lodi, Raffaele

AU - Maresca, Alessandra

AU - Mohamed, Susan

AU - Morelli, Maria Cristina

AU - Papa, Valentina

AU - Tonon, Caterina

AU - Tugnoli, Vitaliano

AU - Carelli, Valerio

AU - D'Alessandro, Roberto

AU - Pinna, Antonio Daniele

PY - 2016/9/1

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AB - 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. Ann Neurol 2016;80:448–455.

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Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Abstract

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