Mitochondriale chronisch progressive externe Ophthalmoplegie

Zusammenfassung

Die chronisch progressive externe Ophthalmoplegie (CPEO) wurde erstmals vor über 100 Jahren beschrieben und ist die häufigste Form einer mitochondrialen Erkrankung. Molekulargenetisch lassen sich singuläre und multiple Deletionen sowie Punktmutationen der mitochondrialen DNA nachweisen. Singuläre Deletionen treten in der Regel sporadisch auf. Multiple Deletionen entstehen auf dem Boden nukleärer Gendefekte, wobei autosomal rezessive oder dominante Erbgänge möglich sind. Punktmutationen folgen einer mitochondrialen Vererbung, das heißt, sie werden von der Mutter auf die nachfolgende Generation weitergegeben. Phänotypisch besteht eine große Variabilität, wobei oftmals Überlappungen zu anderen mitochondrialen Syndromen bestehen. Obgleich es in einem Teil der Fälle eine Korrelation zwischen Geno-und Phänotyp gibt, ist diese jedoch nicht immer eindeutig.

Summary

Chronic progressive external ophthalmoplegia (CPEO) was first described more than 100 years ago and it is the most common type of mitochondrial disorders. Molecular genetic investigations can show single deletions, multiple deletions or point mutations. Single deletions are mostly sporadic. Multiple deletions rise in cause of a nuclear gene defect and autosomal recessive or dominant inheritance is possible. Point mutations follow a maternal inheritance, this means they will pass from the mother to the next generation. Phenotypically there is a high variability and often overlap to other mitochondrial disorders. Sometimes there is a good correlation between genotype and phenotype, but this is not in every case clear.

Schlüsselwörter

CPEO - mitochondrial - Genotyp - Phänotyp

Keywords

CPEO - mitochondrial - genotype - phenotype

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