Publikationsserver der RWTH Aachen University
Mutationen bei primären Mitochondropathien und multiple Deletionen der mitochondrialen DNA bei idiopathischen inflammatorischen Myopathien
Abstract
dc:descriptionIn this study I detected deletions in the mitochondrial genome of patients with idiopathic inflammatory myopathies using long distance PCR and sequencing techniques. The deletions found are unusually large (ca. 10500-12800 bp) and show uncommon 5'-breakpoints between nt800 and nt3326 in the "minor region" of the genome. The atypical location of these deletions suggests a different pathomechanism. The impact of the mitochondrial DNA deletions in the pathogenetic cascade remains uncertain. The mtDNA of a patient whose symptoms seemed to fit to the Kearn-Sayres-Syndrom was also screened using the long distance PCR. Multiple deletions were found and some of them sequenced. The diagnosis KSS could therefore be confermed. The secondary LHON-Mutation A4917G was also found in this patient. The LHON-mutation G3460A was identified in two healthy members (mother and daughter) of a family suffering from LHON. The mutation was sequenced and quantified (100%) using restriction methods. I tried to estimate the lifetime-risk of mother and daughter to become symptomatic. There was no evidence that the dilatative cardiomyopathy also frequent in this familiy was due to mitochondrial deletions. Furthermore I developed restriction tests for the screening of the frequent mitochondrial diseases MERRF, MELAS and M.Leigh and tested several patients using those tools.
Degree
thesis:*- Grantor dc:publisher
- Publikationsserver der RWTH Aachen University
- Year dc:date
- 2003
Author and committee
dc:creator, dc:contributor.*- Author dc:creator
-
- Bank, Corinna Fee
- Contributors dc:contributor
-
- Buse, Gerhard
Subjects
dc:subject × 6Rights
dc:rights- Statement dc:rights
-
- info:eu-repo/semantics/openAccess
- Language dc:language
- ger
Identifiers
dc:identifier.*- OAI identifier oai:identifier
- oai:publications.rwth-aachen.de:59082