Biologia, Bratislava 55/3: 209-221, 2000.

ISSN 0006-3088 (Biologia). ISSN 1335-6399 (Biologia. Section Cellular and Molecular Biology).


Invited Review

Genetic aspects of mitochondrial encephalomyoptahies.


Josef Houstek

Institute of Physiology, Academy of Sciences of the Czech Republic, Videnska 1083, 142 20 Prague, Czech Republic; tel.: ++420 2 4752434, e-mail:

Received: March 10, 2000 / Accepted: March 24, 2000



Human mitochondrial diseases due to disorders of oxidative phosphorylation enzymes are increasingly recognised and diagnosed. They constitute a heterogeneous group of diseases with predominant affection of tissues with high energy demands ranging from severe and often fatal encephalomyopathies of early infancy and childhood to a milder disorders of adults and a variety of senescence degenerative diseases. As the mitochondrial bioenergetic machinery is the product of two genomes, the underlying molecular defects of mitochondrial energy provision are caused by mutations either in mitochondrial or nuclear DNA. Depending on the type of mutation the transmission of mitochondrial diseases can be maternal or mendelian; however, nuclear genetic background is always of key importance. In most cases no causal therapy is available and understanding of underlying genetic defects is crucial for genetic counselling and prenatal diagnosis. This review is focused on genetics of mitochondrial encephalomyopathies with respect of the main pathogenic mtDNA mutations and recently discovered nuclear mutations.


Key words: mitochondria, energy provision, oxidative phosphorylation, mtDNA, respiratory chain, ATP synthase, encephalomyopathy.