Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia

Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. A PCR method, using several combinations of primers covering the whole mtDNA as well as sequence analysis, disclosed the wi...

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Bibliographic Details
Published in:Molecular and cellular probes 1995-06, Vol.9 (3), p.207-214
Main Authors: Ville-Ferlin, T., Dumoulin, R., Stepien, G., Matha, V., Bady, B., Flocard, F., Carrier, H., Mathieu, M., Mousson, B.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Base Sequence
Blotting, Southern
Child
Cloning, Molecular
DNA Primers
DNA, Mitochondrial - genetics
Family Health
Female
Humans
In Situ Hybridization
Male
mitochondrial DNA
Mitochondrial Myopathies - genetics
Molecular Sequence Data
multiple deletions
myopathy
Ophthalmoplegia, Chronic Progressive External - genetics
Polymerase Chain Reaction
Promoter Regions, Genetic
respiratory chain deficiency
Restriction Mapping
Sequence Deletion
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Summary:Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. A PCR method, using several combinations of primers covering the whole mtDNA as well as sequence analysis, disclosed the wide spectrum of these multiple deletions differing in size, location and sequence at the breakpoint junction. Most involved the major region between the two replication origins. However, three deletions affected the minor region and lacked either the light strand origin of replication or the heavy strand promoter. These data suggest an impairment of mtDNA replication leading to illegitimate recombination and extensive damage of mtDNA.
ISSN:0890-8508
1096-1194
DOI:10.1006/mcpr.1995.0031