Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (52)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Sternberg, D.
Right arrow Articles by Amselem, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Sternberg, D.
Right arrow Articles by Amselem, S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 7, 33-42, Copyright © 1998 by Oxford University Press

ARTICLES

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

D Sternberg, C Danan, A Lombes, P Laforet, E Girodon, M Goossens and S Amselem
Service de Biochimie-INSERM U468, Hopital Henri Mondor, Av. du Mar- echal de Lattre de Tassigny, F-94010 Cr-eteil, France.

To gain a better understanding of the molecular basisof mitochondrial (mt) encephalomyopathies, a highly heterogeneous condition, we developed a denaturing gradient gel electrophoresis-based approach that allows rapid and exhaustive screening for mutations of all 22 mt tRNA- encoding genes and their flanking regions in large cohorts of patients. This method, that detects heteroplasmy (i.e. co-existence of mutant and wild-type mtDNA species in various ratios) directly, was applied to the investigation of 35 independent patients with a disease phenotype compatible with a mitochondrial encephalomyopathy. Twenty-five of the 35 patients investigated displayed a sequence variation in at least one tRNA gene. A total of 46 different sequence variations (41 point mutations, four short insertions and one short deletion), among which 20 are new, were characterized. Forty of them were present in a homoplasmic state, whereas six were heteroplasmic. Twenty-two were located in tRNA genes, among which 10 are new homoplasmic or heteroplasmic sequence variations; 24 were located in flanking regions (12 in mRNA-encoding genes, seven of them leading to missense sequence variations; two in rRNA genes; and 10 in non-coding regions). This study demonstrates (i) the high frequency of homoplasmic tRNA gene sequence variations in our patient sample, and (ii) the existence of several polymorphic sites in tRNA gene regions that may be helpful for defining haplogroups in different populations. It relies on a screening method that can now be applied easily to other population samples.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Clin. Chem.Home page
K. S. Lim, R. K. Naviaux, and R. H. Haas
Quantitative Mitochondrial DNA Mutation Analysis by Denaturing HPLC
Clin. Chem., June 1, 2007; 53(6): 1046 - 1052.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
K. Aure, G. Fayet, J. P. Leroy, E. Lacene, N. B. Romero, and A. Lombes
Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation
Brain, May 1, 2006; 129(5): 1249 - 1259.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
C. T. Moraes, D. P. Atencio, J. Oca-Cossio, and F. Diaz
Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations
J. Mol. Diagn., November 1, 2003; 5(4): 197 - 208.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
L.-J. C. Wong, M.-H. Liang, H. Kwon, J. Park, R.-K. Bai, and D.-J. Tan
Comprehensive Scanning of the Entire Mitochondrial Genome for Mutations
Clin. Chem., November 1, 2002; 48(11): 1901 - 1912.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M. Jaksch, S. Kleinle, C. Scharfe, T. Klopstock, D. Pongratz, J. Muller-Hocker, K.-D Gerbitz, S. Liechti-Gallati, H. Lochmuller, and R. Horvath
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
J. Med. Genet., October 1, 2001; 38(10): 665 - 673.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. Karadimas, K. Tanji, M. Geremek, P. Chronopoulou, T. Vu, S. Krishna, C. M. Sue, S. Shanske, E. Bonilla, S. DiMauro, et al.
A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy
J Child Neurol, July 1, 2001; 16(7): 531 - 533.
[Abstract] [PDF]

Home page
 BrainHome page
D. Sternberg, E. Chatzoglou, P. Laforet, G. Fayet, C. Jardel, P. Blondy, M. Fardeau, S. Amselem, B. Eymard, and A. Lombes
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
Brain, May 1, 2001; 124(5): 984 - 994.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Bataillard, E. Chatzoglou, L. Rumbach, D. Sternberg, A. Tournade, P. Laforet, C. Jardel, T. Maisonobe, and A. Lombes
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation
Neurology, February 13, 2001; 56(3): 405 - 407.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.