Literature DB >> 12682338

Reversion of mtDNA depletion in a patient with TK2 deficiency.

M R Vilà1, T Segovia-Silvestre, J Gámez, A Marina, A B Naini, A Meseguer, A Lombès, E Bonilla, S DiMauro, M Hirano, A L Andreu.   

Abstract

Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual clinical, biochemical, and molecular findings in a 14-year-old patient in whom pathogenic mutations were identified in the TK2 gene. This report extends the phenotypic expression of primary TK2 deficiency and suggests that factors other than TK2 may modify expression of the clinical phenotype in patients with MDS syndrome.

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Year:  2003        PMID： 12682338     DOI： 10.1212/01.wnl.0000055928.58122.47

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


  13 in total

1.  Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

Authors:  Beatriz Dorado; Estela Area; Hasan O Akman; Michio Hirano
Journal:  Hum Mol Genet       Date:  2010-10-11       Impact factor: 6.150

2.  Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.

Authors:  Joan Villarroya; Carme de Bolós; Anna Meseguer; Michio Hirano; Maya R Vilà
Journal:  Exp Cell Res       Date:  2009-03-03       Impact factor: 3.905

3.  Clinical and molecular features of mitochondrial DNA depletion syndromes.

Authors:  A Spinazzola; F Invernizzi; F Carrara; E Lamantea; A Donati; M Dirocco; I Giordano; M Meznaric-Petrusa; E Baruffini; I Ferrero; M Zeviani
Journal:  J Inherit Metab Dis       Date:  2008-12-27       Impact factor: 4.982

4.  Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Authors:  Hasan O Akman; Beatriz Dorado; Luis C López; Angeles García-Cazorla; Maya R Vilà; Lauren M Tanabe; William T Dauer; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
Journal:  Hum Mol Genet       Date:  2008-05-08       Impact factor: 6.150

5.  Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice.

Authors:  Joan Villarroya; Beatriz Dorado; Maya R Vilà; Elena Garcia-Arumí; Pere Domingo; Marta Giralt; Michio Hirano; Francesc Villarroya
Journal:  PLoS One       Date:  2011-12-27       Impact factor: 3.240

6.  Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Authors:  Susana Graciela Kalko; Sonia Paco; Cristina Jou; Maria Angels Rodríguez; Marija Meznaric; Mihael Rogac; Maja Jekovec-Vrhovsek; Monica Sciacco; Maurizio Moggio; Gigliola Fagiolari; Boel De Paepe; Linda De Meirleir; Isidre Ferrer; Manel Roig-Quilis; Francina Munell; Julio Montoya; Ester López-Gallardo; Eduardo Ruiz-Pesini; Rafael Artuch; Raquel Montero; Ferran Torner; Andres Nascimento; Carlos Ortez; Jaume Colomer; Cecilia Jimenez-Mallebrera
Journal:  BMC Genomics       Date:  2014-02-01       Impact factor: 3.969

7.  Mitochondrial toxicity studied with the PBMC of children from the Chinese national pediatric highly active antiretroviral therapy cohort.

Authors:  Kai Liu; Yu Sun; Daojie Liu; Jiming Yin; Luxin Qiao; Ying Shi; Yaowu Dong; Ning Li; Fujie Zhang; Dexi Chen
Journal:  PLoS One       Date:  2013-02-27       Impact factor: 3.240

8.  Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Authors:  Neil Ashley; Anthony O'Rourke; Conrad Smith; Susan Adams; Vasantha Gowda; Massimo Zeviani; Garry K Brown; Carl Fratter; Joanna Poulton
Journal:  Hum Mol Genet       Date:  2008-05-16       Impact factor: 6.150

9.  Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Authors:  Frank Roels; Patrick Verloo; François Eyskens; Baudouin François; Sara Seneca; Boel De Paepe; Jean-Jacques Martin; Valerie Meersschaut; Marleen Praet; Emmanuel Scalais; Marc Espeel; Joél Smet; Gert Van Goethem; Rudy Van Coster
Journal:  BMC Clin Pathol       Date:  2009-06-05

10.  Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

Authors:  J Müller-Höcker; R Horvath; S Schäfer; H Hessel; W Müller-Felber; J Kühr; W C Copeland; P Seibel
Journal:  J Cell Mol Med       Date:  2011-02       Impact factor: 5.310
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