Mitochondriale Zytopathien : Aufarbeitung der unterschiedlichen Pathogenese ausgewählter mitochondrialer Zytopathien anhand von zwei Fallbeispielen

Mitochondrial cytopathies are a heterogeneous group of diseases with a pathogenesis which is still not completely understood. This paper shows the heterogeneity of mitochondrial diseases on the basis of two clinical cases, the problem of their clinical interpretation and the unanswered questions concerning their pathogenesis. Therefore the mitochondrial dna of the two patients is analyzed by molecular genetic methods. The results are discussed concerning the clinical, pathoanatomical and molecular biological findings. Because of this approach a special question is raised for each patient's special findings. The first case is a patient suffering from LHON with a lymphoma, who needed chemotherapy. Due to the preliminary damaged mitochondria we were afraid of a higher risk the therapy could cause, mainly because apoptosis is discussed in the pathogenesis of LHON. In order to estimate this risk the clinical diagnosis LHON has to be ensured by molecular genetic examinations. The effects of the chemotherapy were carefully clinically monitored and tested in vitro. As a conclusion the influence of the detected mutations on the cells' sensitivity for cytostatic drugs should be evaluated. The second case shows immunhistochemical signs of a Becker's muscular dystrophy, but histological, electron microscopical and biochemical signs for a mitochondrial myopathy. Damages in the mitochondrial dna shall be found to explain the different findings. Again the connection between the mitochondrial dna alterations, the histological findings and the clinical symptoms is of great importance. Finally an overview of the assumed pathogenesis is given by literature research.

Grantor dc:publisher

Publikationsserver der RWTH Aachen University

Year dc:date

2008

Author dc:creator

• Haverkamp, Lars Christian Arndt Simon

Contributors dc:contributor

• Buse, Gerhard

• info:eu-repo/classification/ddc/610
• Mitochondrium
• Mitochondriale DNS
• Optikusatrophie
• Mitochondriale Myopathie
• Herzmuskelkrankheit
• Genmutation
• Medizin
• Mitonchondriale DNA-Depletion
• mitochondrial DNA depletion
• LHON

Statement dc:rights

• info:eu-repo/semantics/openAccess

Language dc:language

ger

Identifier

https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-113008%22

OAI record oai:identifier

https://publications.rwth-aachen.de/oai2d?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Apublications.rwth-aachen.de%3A50462