Titre
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Kleinle, S.
Auteure/Auteur
Wiesmann, U.
Auteure/Auteur
Superti-Furga, A.
Auteure/Auteur
Krähenbühl, S.
Auteure/Auteur
Boltshauser, E.
Auteure/Auteur
Reichen, J.
Auteure/Auteur
Liechti-Gallati, S.
Auteure/Auteur
Liens vers les personnes
ISSN
0340-6717
Statut éditorial
Publié
Date de publication
1997
Volume
100
Numéro
5-6
Première page
643
Dernière page/numéro d’article
650
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA) rearrangements in two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome (KSS), respectively, and one patient with myopathic symptoms of unidentified origin. Mitochondrial DNA rearrangements were detected by amplification of the complete mitochondrial genome (16.6 kb) using long PCR with primers located in essential regions of the mitochondrial genome and quantified by three-primer PCR. Long PCR with deletion-specific primers was used for identification and quantitative estimation of the different forms of rearranged molecules, such as deletions and duplications. We detected significant amounts of a common 7.4-kb deletion flanked by a 12-bp direct repeat in all tissues tested from the patient with Pearson syndrome. In skeletal muscle from the patient with clinical signs of KSS we found significant amounts of a novel 3.7-kb rearrangement flanked by a 4-bp inverted repeat that was present in the form of deletions as well as duplications. In the patient suffering from myopathic symptoms of unidentified origin we did not detect rearranged mtDNA in blood but found low levels of two rearranged mtDNA populations in skeletal muscle, a previously described 7-kb deletion flanked by a 7-bp direct repeat and a novel 6.6-kb deletion with no repeat. These two populations, however, were unlikely to be the cause of the myopathic symptoms as they were present at low levels (10-40 ppm). Using a strategy based on screening with long PCR we were able to detect and characterize high as well as low levels of mtDNA rearrangements in three patients.
Sujets
PID Serval
serval:BIB_1DF47A0C0216
PMID
Date de création
2011-03-14T15:14:20.767Z
Date de création dans IRIS
2025-05-20T20:35:00Z