Literature DB >> 12765840

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

Ann Saada1, Avraham Shaag, Orly Elpeleg.   

Abstract

Decreased mitochondrial thymidine kinase (TK2) activity is associated with mitochondrial DNA (mtDNA) depletion and respiratory chain dysfunction and is manifested by isolated, fatal skeletal myopathy. Other tissues such as liver, brain, heart, and skin remain unaffected throughout the patients' life. In order to elucidate the mechanism of tissue specificity in the disease we have investigated the expression of the mitochondrial deoxynucleotide carrier, the mtDNA content and the activity of TK2 in mitochondria of various tissues. Our results suggest that low basal TK2 activity combined with a high requirement for mitochondrial encoded proteins in muscle predispose this tissue to the devastating effect of TK2 deficiency.

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Year:  2003        PMID： 12765840     DOI： 10.1016/s1096-7192(03)00063-5

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  38 in total

1.  Structure-guided engineering of human thymidine kinase 2 as a positron emission tomography reporter gene for enhanced phosphorylation of non-natural thymidine analog reporter probe.

Authors:  Dean O Campbell; Shahriar S Yaghoubi; Ying Su; Jason T Lee; Martin S Auerbach; Harvey Herschman; Nagichettiar Satyamurthy; Johannes Czernin; Arnon Lavie; Caius G Radu
Journal:  J Biol Chem       Date:  2011-11-09       Impact factor: 5.157

2.  Activation of a novel calcineurin-mediated insulin-like growth factor-1 receptor pathway, altered metabolism, and tumor cell invasion in cells subjected to mitochondrial respiratory stress.

Authors:  Manti Guha; Satish Srinivasan; Gopa Biswas; Narayan G Avadhani
Journal:  J Biol Chem       Date:  2007-03-13       Impact factor: 5.157

3.  Zidovudine inhibits thymidine phosphorylation in the isolated perfused rat heart.

Authors:  Delia Susan-Resiga; Alice T Bentley; Matthew D Lynx; Darcy D LaClair; Edward E McKee
Journal:  Antimicrob Agents Chemother       Date:  2007-01-12       Impact factor: 5.191

4.  Metabolism of deoxypyrimidines and deoxypyrimidine antiviral analogs in isolated brain mitochondria.

Authors:  Kathleen A McCann; David W Williams; Edward E McKee
Journal:  J Neurochem       Date:  2012-05-21       Impact factor: 5.372

5.  3'-Azido-3'-deoxythymidine (AZT) is a competitive inhibitor of thymidine phosphorylation in isolated rat heart and liver mitochondria.

Authors:  Matthew D Lynx; Edward E McKee
Journal:  Biochem Pharmacol       Date:  2006-04-25       Impact factor: 5.858

Review 6.  Inherited mitochondrial diseases of DNA replication.

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

7.  Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome.

Authors:  Xiaoshan Zhou; Magnus Johansson; Nicola Solaroli; Björn Rozell; Alf Grandien; Anna Karlsson
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982

8.  The kinetic effects on thymidine kinase 2 by enzyme-bound dTTP may explain the mitochondrial side effects of antiviral thymidine analogs.

Authors:  Liya Wang; Ren Sun; Staffan Eriksson
Journal:  Antimicrob Agents Chemother       Date:  2011-03-28       Impact factor: 5.191

9.  A computational model of mitochondrial AZT metabolism.

Authors:  Patrick C Bradshaw; Jiaxin Li; David C Samuels
Journal:  Biochem J       Date:  2005-12-01       Impact factor: 3.857

10.  Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain.

Authors:  Hila Zigdon; Aviram Kogot-Levin; Joo-Won Park; Ruth Goldschmidt; Samuel Kelly; Alfred H Merrill; Avigdor Scherz; Yael Pewzner-Jung; Ann Saada; Anthony H Futerman
Journal:  J Biol Chem       Date:  2013-01-02       Impact factor: 5.157
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