title: Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy.
abstract: It is still uncertain how deleted mitochondrial DNA (mtDNA) is distributed to each tissue during development, although deletions of mtDNA have been extensively observed in various pathologic conditions. This paper presents two Japanese siblings with progressive external ophthalmoplegia exhibiting multiple mtDNA deletions. In one patient, similar multiple mtDNA deletions were found in skeletal muscle specimens as well as in the spinal cord but not in the myocardium, liver or leukocytes. A similar deletion pattern was found in the skeletal muscle but not in the leukocytes of the other patient. The results suggest the complex mechanism to generate, expand and eliminate the deleted mtDNA in humans.
authors.affiliation: Department of Pathology, School of Medicine, Iwate Medical University, Japan. snishizk@iwate-med.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Nishizuka
authors.forename: G
authors.initials: G
authors.lastname: Tamura
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: T
authors.initials: T
authors.lastname: Konno
authors.forename: M
authors.initials: M
authors.lastname: Hakozaki
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: H
authors.initials: H
authors.lastname: Tohgi
authors.forename: R
authors.initials: R
authors.lastname: Satodate
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009928:Organ Specificity / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013116:Spinal Cord / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial