Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

被引：68

作者：

De Giorgio, Roberto ^{[1
]}

Pironi, Loris ^{[1
]}

Rinaldi, Rita ^{[2
]}

Boschetti, Elisa ^{[1
]}

Caporali, Leonardo ^{[3
]}

Capristo, Mariantonietta ^{[3
]}

Casali, Carlo ^{[4
]}

Cenacchi, Giovanna ^{[5
]}

Contin, Manuela ^{[3
,5
]}

D'Angelo, Roberto ^{[1
,2
]}

D'Errico, Antonietta ^{[6
]}

Gramegna, Laura Ludovica ^{[5
]}

Lodi, Raffaele ^{[5
]}

Maresca, Alessandra ^{[3
]}

Mohamed, Susan ^{[3
]}

Morelli, Maria Cristina ^{[1
]}

Papa, Valentina ^{[5
]}

Tonon, Caterina ^{[5
]}

Tugnoli, Vitaliano ^{[5
]}

Carelli, Valerio ^{[3
,5
]}

D'Alessandro, Roberto ^{[3
]}

Pinna, Antonio Daniele ^{[1
]}

机构：

[1] Univ Bologna, Dept Surg & Med Sci, Bologna, Italy

[2] St Orsola Malpighi Hosp, Neurol Unit, Bologna, Italy

[3] IRCCS Inst Neurol Sci Bologna, Bologna, Italy

[4] Univ Roma La Sapienza, Dept Med Surg Sci & Biotechnol, Rome, Italy

[5] Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy

[6] Dept Specialized Diagnost & Expt Med, Bologna, Italy

来源：

ANNALS OF NEUROLOGY | 2016年 / 80卷 / 03期

关键词：

THYMIDINE PHOSPHORYLASE-DEFICIENCY; STEM-CELL TRANSPLANTATION; MNGIE SYNDROME; DEOXYURIDINE; MUTATIONS; PLASMA; DEPLETION; DELETIONS; DISORDER;

D O I：

10.1002/ana.24724

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：448 / 455

页数：8

共 20 条

[1] OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes [J].

Amati-Bonneau, Patrizia ;

Valentino, Maria Lucia ;

Reynier, Pascal ;

Gallardo, Maria Esther ;

Bornstein, Belen ;

Boissiere, Anne ;

Campos, Yolanda ;

Rivera, Henry ;

de la Aleja, Jesus Gonzalez ;

Carroccia, Rosanna ;

Iommarini, Luisa ;

Labauge, Pierre ;

Figarella-Branger, Dominique ;

Marcorelles, Pascale ;

Furby, Alain ;

Beauvais, Katell ;

Letournel, Franck ;

Liguori, Rocco ;

La Morgia, Chiara ;

Montagna, Pasquale ;

Liguori, Maria ;

Zanna, Claudia ;

Rugolo, Michela ;

Cossarizza, Andrea ;

Wissinger, Bernd ;

Verny, Christophe ;

Schwarzenbacher, Robert ;

Martin, Miguel Angel ;

Arenas, Joaquin ;

Ayuso, Carmen ;

Garesse, Rafael ;

Lenaers, Guy ;

Bonneau, Dominique ;

Carelli, Valerio .

BRAIN, 2008, 131 :338-351

[2] Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy [J].

Boschetti, Elisa ;

D'Alessandro, Roberto ;

Bianco, Francesca ;

Carelli, Valerio ;

Cenacchi, Giovanna ;

Pinna, Antonio D. ;

Del Gaudio, Massimo ;

Rinaldi, Rita ;

Stanghellini, Vincenzo ;

Pironi, Loris ;

Rhoden, Kerry ;

Tugnoli, Vitaliano ;

Casali, Carlo ;

De Giorgio, Roberto .

PLOS ONE, 2014, 9 (05)

[3] Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy [J].

Filosto, Massimiliano ;

Scarpelli, Mauro ;

Tonin, Paola ;

Lucchini, Giovanna ;

Pavan, Fabio ;

Santus, Francesca ;

Parini, Rossella ;

Donati, Maria Alice ;

Cotelli, Maria Sofia ;

Vielmi, Valentina ;

Todeschini, Alice ;

Canonico, Francesco ;

Tomelleri, Giuliano ;

Padovani, Alessandro ;

Rovelli, Attilio .

JOURNAL OF NEUROLOGY, 2012, 259 (12) :2699-2706

[4]

Finkenstedt A, 2013, JIMD REP, V10, P41, DOI 10.1007/8904_2012_199

[5] Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion [J].

Giordano, Carla ;

Sebastiani, Mariangela ;

De Giorgio, Roberto ;

Travaglini, Claudia ;

Tancredi, Andrea ;

Valentino, Maria Lucia ;

Bellan, Marzio ;

Cossarizza, Andrea ;

Hirano, Michio ;

d'Amati, Giulia ;

Carelli, Valerio .

AMERICAN JOURNAL OF PATHOLOGY, 2008, 173 (04) :1120-1128

[6] Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach [J].

Halter, J. ;

Schuepbach, W. M. M. ;

Casali, C. ;

Elhasid, R. ;

Fay, K. ;

Hammans, S. ;

Illa, I. ;

Kappeler, L. ;

Kraehenbuehl, S. ;

Lehmann, T. ;

Mandel, H. ;

Marti, R. ;

Mattle, H. ;

Orchard, K. ;

Savage, D. ;

Sue, C. M. ;

Valcarcel, D. ;

Gratwohl, A. ;

Hirano, M. .

BONE MARROW TRANSPLANTATION, 2011, 46 (03) :330-337

[7] Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy [J].

Halter, Joerg P. ;

Schuepbach, W. Michael M. ;

Mandel, Hanna ;

Casali, Carlo ;

Orchard, Kim ;

Collin, Matthew ;

Valcarcel, David ;

Rovelli, Attilio ;

Filosto, Massimiliano ;

Dotti, Maria T. ;

Marotta, Giuseppe ;

Pintos, Guillem ;

Barba, Pere ;

Accarino, Anna ;

Ferra, Christelle ;

Illa, Isabel ;

Beguin, Yves ;

Bakker, Jaap A. ;

Boelens, Jaap J. ;

de Coo, Irenaeus F. M. ;

Fay, Keith ;

Sue, Carolyn M. ;

Nachbaur, David ;

Zoller, Heinz ;

Sobreira, Claudia ;

Simoes, Belinda Pinto ;

Hammans, Simon R. ;

Savage, David ;

Marti, Ramon ;

Chinnery, Patrick F. ;

Elhasid, Ronit ;

Gratwohl, Alois ;

Hirano, Michio .

BRAIN, 2015, 138 :2847-2858

[8] Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE [J].

Hirano, M. ;

Marti, R. ;

Casali, C. ;

Tadesse, S. ;

Uldrick, T. ;

Fine, B. ;

Escolar, D. M. ;

Valentino, M. L. ;

Nishino, I. ;

Hesdorffer, C. ;

Schwartz, J. ;

Hawks, R. G. ;

Martone, D. L. ;

Cairo, M. S. ;

DiMauro, S. ;

Stanzani, M. ;

Garvin, J. H., Jr. ;

Savage, D. G. .

NEUROLOGY, 2006, 67 (08) :1458-1460

[9] MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) - CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF AN AUTOSOMAL RECESSIVE MITOCHONDRIAL DISORDER [J].

HIRANO, M ;

SILVESTRI, G ;

BLAKE, DM ;

LOMBES, A ;

MINETTI, C ;

BONILLA, E ;

HAYS, AP ;

LOVELACE, RE ;

BUTLER, I ;

BERTORINI, TE ;

THRELKELD, AB ;

MITSUMOTO, H ;

SALBERG, LM ;

ROWLAND, LP ;

DIMAURO, S .

NEUROLOGY, 1994, 44 (04) :721-727

[10] A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells [J].

Krishnan, Kim J. ;

Bender, Andreas ;

Taylor, Robert W. ;

Turnbull, Douglass M. .

ANALYTICAL BIOCHEMISTRY, 2007, 370 (01) :127-129

← 1 2 →