Literature DB >> 16971696

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

M Hirano1, R Martí, C Casali, S Tadesse, T Uldrick, B Fine, D M Escolar, M L Valentino, I Nishino, C Hesdorffer, J Schwartz, R G Hawks, D L Martone, M S Cairo, S DiMauro, M Stanzani, J H Garvin, D G Savage.   

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.

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Year:  2006        PMID： 16971696      PMCID： PMC4345106          DOI： 10.1212/01.wnl.0000240853.97716.24

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

1.  Infusion of platelets transiently reduces nucleoside overload in MNGIE.

Authors:  M C Lara; B Weiss; I Illa; P Madoz; L Massuet; A L Andreu; M L Valentino; Y Anikster; M Hirano; R Martí
Journal:  Neurology       Date:  2006-09-13       Impact factor: 9.910

2.  Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Authors:  I Nishino; A Spinazzola; A Papadimitriou; S Hammans; I Steiner; C D Hahn; A M Connolly; A Verloes; J Guimarães; I Maillard; H Hamano; M A Donati; C E Semrad; J A Russell; A L Andreu; G M Hadjigeorgiou; T H Vu; S Tadesse; T G Nygaard; I Nonaka; I Hirano; E Bonilla; L P Rowland; S DiMauro; M Hirano
Journal:  Ann Neurol       Date:  2000-06       Impact factor: 10.422

3.  Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Authors:  Ramon Martí; Jan J G M Verschuuren; Alan Buchman; Ikuo Hirano; Saba Tadesse; André B P van Kuilenburg; Albert H van Gennip; Ben J H M Poorthuis; Michio Hirano
Journal:  Ann Neurol       Date:  2005-10       Impact factor: 10.422

4.  Altered thymidine metabolism due to defects of thymidine phosphorylase.

Authors:  Antonella Spinazzola; Ramon Marti; Ichizo Nishino; Antonio L Andreu; Ali Naini; Saba Tadesse; Ivana Pela; Enrico Zammarchi; M Alice Donati; Juan A Oliver; Michio Hirano
Journal:  J Biol Chem       Date:  2001-12-03       Impact factor: 5.157

5.  Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

Authors:  Ramon Martí; Yutaka Nishigaki; Michio Hirano
Journal:  Biochem Biophys Res Commun       Date:  2003-03-28       Impact factor: 3.575

6.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Authors:  M Hirano; G Silvestri; D M Blake; A Lombes; C Minetti; E Bonilla; A P Hays; R E Lovelace; I Butler; T E Bertorini
Journal:  Neurology       Date:  1994-04       Impact factor: 9.910

7.  A pilot study of reduced intensity conditioning and allogeneic stem cell transplantation from unrelated cord blood and matched family donors in children and adolescent recipients.

Authors:  G Del Toro; P Satwani; L Harrison; Y-K Cheung; M Brigid Bradley; D George; D J Yamashiro; J Garvin; D Skerrett; O Bessmertny; K Wolownik; C Wischhover; C van de Ven; M S Cairo
Journal:  Bone Marrow Transplant       Date:  2004-03       Impact factor: 5.483

Review 8.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Authors:  Michio Hirano; Yutaka Nishigaki; Ramon Martí
Journal:  Neurologist       Date:  2004-01       Impact factor: 1.398

9.  Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Authors:  I Nishino; A Spinazzola; M Hirano
Journal:  Science       Date:  1999-01-29       Impact factor: 47.728

10.  Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools.

Authors:  Giovanna Pontarin; Lisa Gallinaro; Paola Ferraro; Peter Reichard; Vera Bianchi
Journal:  Proc Natl Acad Sci U S A       Date:  2003-09-30       Impact factor: 11.205
  10 in total
  64 in total

1.  Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Caterina Garone; Saba Tadesse; Michio Hirano
Journal:  Brain       Date:  2011-09-20       Impact factor: 13.501

2.  Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up.

Authors:  F Sicurelli; M A Carluccio; F Toraldo; M Tozzi; A Bucalossi; M Lenoci; G Jacomelli; V Micheli; E Cardaioli; M Mondelli; A Federico; G Marotta; M T Dotti
Journal:  J Neurol       Date:  2012-04-25       Impact factor: 4.849

3.  Hematopoietic stem cell transplantation: a global perspective.

Authors:  Alois Gratwohl; Helen Baldomero; Mahmoud Aljurf; Marcelo C Pasquini; Luis Fernando Bouzas; Ayami Yoshimi; Jeff Szer; Jeff Lipton; Alvin Schwendener; Michael Gratwohl; Karl Frauendorfer; Dietger Niederwieser; Mary Horowitz; Yoshihisa Kodera
Journal:  JAMA       Date:  2010-04-28       Impact factor: 56.272

Review 4.  Inherited mitochondrial diseases of DNA replication.

Authors:  William C Copeland
Journal:  Annu Rev Med       Date:  2008       Impact factor: 13.739

5.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

Review 6.  Mitochondrial energetics and therapeutics.

Authors:  Douglas C Wallace; Weiwei Fan; Vincent Procaccio
Journal:  Annu Rev Pathol       Date:  2010       Impact factor: 23.472

Review 7.  Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses.

Authors:  Yael Dreznik; Mordechai Gutman; Batia Weiss; Avinoam Nevler
Journal:  J Gastrointest Surg       Date:  2014-07-15       Impact factor: 3.452

Review 8.  Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Authors:  Ayman W El-Hattab; Fernando Scaglia
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 9.  Transplantation as disease modifying therapy in adults with inherited metabolic disorders.

Authors:  Sandra Sirrs; Fady Hannah-Shmouni; Stephen Nantel; James Neuberger; Eric M Yoshida
Journal:  J Inherit Metab Dis       Date:  2018-02-01       Impact factor: 4.982

10.  Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

Authors:  C Lamperti; M Zeviani
Journal:  Acta Myol       Date:  2009-07
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