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.
Kapsa
R
R
Department of Clinical Neurosciences, St. Vincent's Hospital, Fitzroy Vic., Australia.
Thompson
G N
GN
Thorburn
D R
DR
Dahl
H H
HH
Marzuki
S
S
Byrne
E
E
Blok
R B
RB
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