Mitochondrial diseases.

TitleMitochondrial diseases.
Publication TypeJournal Article
Year of Publication1989
AuthorsZeviani, M, Bonilla, E, DeVivo, DC, DiMauro, S
JournalNeurol Clin
Date Published1989 Feb
KeywordsBrain Diseases, Metabolic, DNA, Energy Metabolism, Genetic Code, Humans, Mitochondria, Pedigree

Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects involving: (1) mitochondrial transport; (2) substrate oxidation; (3) Krebs cycle; (4) respiratory chain; and (5) oxidation-phosphorylation coupling. For each biochemical group of disorders, the authors describe clinical presentations and biochemical findings. These disorders are especially interesting from the genetic point of view because mitochondria have their own DNA (mtDNA), which encodes 13 polypeptides, all of them subunits of respiratory chain complexes. Other mitochondrial proteins are encoded by nuclear DNA, synthesized in the cytoplasm, and imported into the mitochondria by a complex mechanism. Because mtDNA is inherited strictly by maternal, cytoplasmic inheritance, mitochondrial diseases can be transmitted by Mendelian or by non-Mendelian, maternal inheritance, as illustrated by human pathology.

Alternate JournalNeurol Clin
Citation Key1461
PubMed ID2646519
Grant ListNS 11766 / NS / NINDS NIH HHS / United States