Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.
A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.
Ponzetto
C
C
Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
Bresolin
N
N
Bordoni
A
A
Moggio
M
M
Meola
G
G
Bet
L
L
Prelle
A
A
Scarlato
G
G
D001921:Brain / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000032:analysis*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics*
D004272:DNA, Mitochondrial