Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1792

Review

Poulton, J.¹  Hirano, M.²  Spinazzola, A.³  Hernandez, M. Arenas⁴  Jardel, C.⁵  Lombes, A.⁶  Czermin, B.⁷  Horvath, R.⁸  Taanman, J. W.⁹  Rotig, A.¹⁰  Zeviani, M.¹¹  Fratter, C.¹² 

[1] Univ Oxford, NDOG, Womens Ctr, Oxford OX3 9DU, England

[2] Columbia Univ, Med Ctr, New York, NY 10032 USA

[3] MRC, Mitochondrial Biol Unit, Cambridge CB2 0X4, England

[4] St Thomas Hosp, Purine Res Lab, London, England

[5] Hop La Pitie Salpetriere, Inst Myol, INSERM 582, Paris, France

[6] UPMC, Hop La Pitie Salpetriere, CNRS,UMRS 975,UMR 7225,Inst Cerveau & Moelle CRIC, INSERM,Physiopathol Cellulaire & Mol Malad Mitoch, F-75651 Paris 13, France

[7] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany

[8] Newcastle Univ, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[9] UCL, Inst Neurol, Dept Clin Neurosci, London NW3 2PF, England

[10] Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

[11] Neurol Inst C Besta, I-20133 Milan, Italy

[12] Churchill Hosp, Mol Genet Labs, Oxford OX3 7LJ, England

关键词: mtDNA;    mtDNA depletion;    C10orf2;    SUCLG1;    SUCLA2;    TYMP;    RRM2B;    MPV17;    DGUOK;    TK2;   

DOI  :  10.1016/j.bbadis.2009.08.016

来源: Elsevier

【 摘 要 】

These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http://tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders. (C) 2009 Elsevier B.V. All rights reserved.

【 授权许可】

Free