title: Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
abstract: An electron microscopic study revealed disruption of capillary endothelial tight junctions (TJs) in both biopsied muscle, taken at 5 years and 1 month of age, and the autopsied brain, taken at 13 years and 6 months of age, in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and mitochondrial DNA (mtDNA) point mutation A3243G. This endothelial barrier disruption might result in vasogenic edema and systemic lactic acidosis, possibly the critical pathology of MELAS.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. mi.matsu@ped.twmu.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Matsuzaki
authors.forename: R
authors.initials: R
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Nakayama
authors.forename: K
authors.initials: K
authors.lastname: Shishikura
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Hirayama
authors.forename: M
authors.initials: M
authors.lastname: Osawa
authors.forename: H
authors.initials: H
authors.lastname: Oda
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology* / Q000648:ultrastructure; D004272:DNA, Mitochondrial / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics / Q000473:pathology*; D046529:Microscopy, Electron, Transmission / Q000379:methods; D017354:Point Mutation / Q000235:genetics; D019108:Tight Junctions / Q000000981:diagnostic imaging / Q000473:pathology*; D014463:Ultrasonography
chemical_list: D004272:DNA, Mitochondrial