Mitochondrial diseases.
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September, 2001. Nuclear DNA defects affecting mitochondrial function and mtDNA replication and integrity have also been identified in the past few years and more are expected. As a result, human "mitochondrial" diseases have evolved beyond the novelty diagnoses of a decade ago into an important area of medicine, and thus, the diagnostic principles of these disorders ought to be familiar to the clinician. In this article, the authors, we summarize the principles of mitochondrial genetics and discuss the common phenotypes, general diagnostic approach, and possible therapeutic venues for these fascinating disorders.
Vu
Tuan H
TH
Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY, USA.
Hirano
Michio
M
DiMauro
Salvatore
S
D000328:Adult; D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D017240:Mitochondrial Myopathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004272:DNA, Mitochondrial; D005819:Genetic Markers