A novel mtDNA deletion in an infant with Pearson syndrome.
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 complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.
Department of Clinical Neurosciences, St. Vincent's Hospital, Fitzroy Vic., Australia.
R
R
Kapsa
G N
GN
Thompson
D R
DR
Thorburn
H H
HH
Dahl
S
S
Marzuki
E
E
Byrne
R B
RB
Blok
D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000032:analysis*; D017353:Gene Deletion; D006410:Hematopoiesis; D006801:Humans; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D008969:Molecular Sequence Data; D010182:Pancreatic Diseases / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial