Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
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.
Matsuzaki
M
M
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. mi.matsu@ped.twmu.ac.jp
Takahashi
R
R
Nakayama
T
T
Shishikura
K
K
Suzuki
H
H
Hirayama
Y
Y
Osawa
M
M
Oda
H
H
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
D004272:DNA, Mitochondrial