Mitochondrial disorders. A diagnostic challenge in clinical chemistry

Citation
Mf. Bauer et al., Mitochondrial disorders. A diagnostic challenge in clinical chemistry, CLIN CH L M, 37(9), 1999, pp. 855-876
Citations number
207
Language
INGLESE
art.tipo
Review
Categorie Soggetti
Medical Research Diagnosis & Treatment
Journal title
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
ISSN journal
1434-6621 → ACNP
Volume
37
Issue
9
Year of publication
1999
Pages
855 - 876
Database
ISI
SICI code
1434-6621(199909)37:9<855:MDADCI>2.0.ZU;2-J
Abstract
Mitochondria play a pivotal role in cellular metabolism and in energy produ ction in particular. Defects in structure or function of mitochondria, main ly involving the oxidative phosphorylation (OXPHOS), mitochondrial biogenes is and other metabolic pathways, have been shown to be associated with a wi de spectrum of clinical phenotypes. The ubiquitous nature of mitochondria a nd their unique genetic features contribute to the clinical, biochemical an d genetic heterogeneity of mitochondrial diseases. We will focus on the rec ent advances in the field of mitochondrial disorders and their consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mech anisms will be given.