Journal article

A NOVEL MTDNA DELETION IN AN INFANT WITH PEARSON SYNDROME

R KAPSA, GN THOMPSON, DR THORBURN, HHM DAHL, S MARZUKI, E BYRNE, RB BLOK

JOURNAL OF INHERITED METABOLIC DISEASE | KLUWER ACADEMIC PUBL | Published : 1994

Abstract

Pearson syndrome is a multisystem mitochondrial disorder of infancy that is associated with deletions in the mitochondrial DNA (mtDNA) genome. We report a study on a male infant with Pearson syndrome. Assessment of oxidative phosphorylation activity indicated combined respiratory-chain defects in muscle, liver and fibroblasts; in particular, activity of complex I was reduced. Analysis of the patient's mtDNA identified a novel heteroplasmic 2.461 kb deletion, present at levels greater than 50% of the total mtDNA in the tissues examined. The deletion spanned nucleotides 10368 to 12828 and was flanked by a 3 bp GCC direct repeat sequence. Gene sequences affected are subunits 3, 4, 4L and 5 of c..

View full abstract