title: Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.
abstract: Leber's hereditary optic neuropathy is a blinding disease that usually causes acute or subacute central visual loss in adolescent and young adult males. In patients who lack a family history of a similar illness, Leber's disease has been a diagnosis of exclusion. The recent discovery of a specific mitochondrial mutation in many pedigrees affected with the disease has provided the basis for rapid molecular diagnosis of one genetic type of Leber's disease. We have developed a new method, based on a Mae III (Boehringer Mannheim Biochemicals, Indianapolis, Ind) restriction fragment length polymorphism, for detecting the Wallace-type Leber's mutation. The method has several advantages over the previously used SfaN I method that make it more suitable for use as a general laboratory test. We demonstrate the utility of this new test in the diagnosis of Leber's disease in a patient with no family history of visual loss.
authors.affiliation: Department of Ophthalmology, University of Iowa College of Medicine, Howard Hughes Medical Institute, Iowa City.
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: J M
authors.initials: JM
authors.lastname: Coppinger
authors.forename: R H
authors.initials: RH
authors.lastname: Kardon
authors.forename: J
authors.initials: J
authors.lastname: Donelson
mesh_terms: D000328:Adult; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014792:Visual Acuity
chemical_list: D004272:DNA, Mitochondrial; C040838:endodeoxyribonuclease MaeIII; D015252:Deoxyribonucleases, Type II Site-Specific; C065993:endodeoxyribonuclease SfaNI