Nucleus-driven mutations of human mitochondrial DNA.

TitleNucleus-driven mutations of human mitochondrial DNA.
Publication TypeJournal Article
Year of Publication1992
AuthorsZeviani, M
JournalJ Inherit Metab Dis
Date Published1992
KeywordsBase Sequence, Cell Nucleus, Chromosome Deletion, DNA, Mitochondrial, Humans, Molecular Sequence Data, Mutation, Neuromuscular Diseases, Pedigree

Neuromuscular disorders due to abnormalities of mitochondrial energy supply have become an important area of human pathology. In particular, lesions of the mitochondrial genome (mtDNA), a small extra-nuclear chromosome which encodes 13 subunits of the respiratory chain complexes, are responsible for a steadily increasing number of neuromuscular syndromes. In addition to sporadic or maternally-inherited mutations, either qualitative or quantitative abnormalities of mtDNA can be transmitted as Mendelian traits, leading to well-defined mitochondrial encephalomyopathies. The latter are presumably caused by mutations in still unknown nucleus-encoded genes which deleteriously interact with the mitochondrial genome. These observations are of importance from both clinical and theoretical points of view, because they are the first examples of diseases produced by abnormalities of the nuclear control over mitochondrial biogenesis.

Alternate JournalJ. Inherit. Metab. Dis.
Citation Key10.1007/bf01799604
PubMed ID1528006