A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions

Research output: Contribution to journalArticle

Abstract

Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present report, we described a Pearson syndrome patient harboring multiple mitochondrial deletions which is, in our knowledge, the first case described and studied in Tunisia. In fact, we reported the common 4.977kb deletion and two novel heteroplasmic deletions (5.030 and 5.234kb) of the mtDNA. These deletions affect several protein-coding and tRNAs genes and could strongly lead to defects in mitochondrial polypeptides synthesis, and impair oxidative phosphorylation and energy metabolism in the respiratory chain in the studied patient.

Details

Authors
  • Imen Ben Ayed
  • Imen Chamkha
  • Emna Mkaouar-Rebai
  • Thouraya Kammoun
  • Najla Mezghani
  • Imen Chabchoub
  • Hajer Aloulou
  • Mongia Hachicha
  • Faiza Fakhfakh
External organisations
  • University of Sfax
Research areas and keywords

Keywords

  • Acyl-CoA Dehydrogenase, Long-Chain, Anemia, Sideroblastic, Base Sequence, DNA, Mitochondrial, Fatal Outcome, Female, Genes, Mitochondrial, Humans, Infant, Lipid Metabolism, Inborn Errors, Mitochondrial Diseases, Muscular Diseases, Sequence Deletion
Original languageEnglish
Pages (from-to)381-6
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume411
Issue number2
Publication statusPublished - 2011 Jul 29
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes