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A novel mtDNA deletion in an infant with Pearson syndrome.

Journal Article


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 complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.

Publication Date


  • 1994

Citation


  • Kapsa, R., Thompson, G. N., Thorburn, D. R., Dahl, H. H., Marzuki, S., Byrne, E., & Blok, R. B. (1994). A novel mtDNA deletion in an infant with Pearson syndrome.. Journal of inherited metabolic disease, 17(5), 521-526. doi:10.1007/bf00711584

Web Of Science Accession Number


Start Page


  • 521

End Page


  • 526

Volume


  • 17

Issue


  • 5

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 complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.

Publication Date


  • 1994

Citation


  • Kapsa, R., Thompson, G. N., Thorburn, D. R., Dahl, H. H., Marzuki, S., Byrne, E., & Blok, R. B. (1994). A novel mtDNA deletion in an infant with Pearson syndrome.. Journal of inherited metabolic disease, 17(5), 521-526. doi:10.1007/bf00711584

Web Of Science Accession Number


Start Page


  • 521

End Page


  • 526

Volume


  • 17

Issue


  • 5