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

Ayed, Imen Ben; Chamkha, Imen LU ; Mkaouar-Rebai, Emna; Kammoun, Thouraya; Mezghani, Najla; Chabchoub, Imen; Aloulou, Hajer; Hachicha, Mongia and Fakhfakh, Faiza (2011) In Biochemical and Biophysical Research Communications 411(2). p.6-381
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... (More)

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.

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author
publishing date
type
Contribution to journal
publication status
published
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
in
Biochemical and Biophysical Research Communications
volume
411
issue
2
pages
6 pages
publisher
Elsevier
external identifiers
  • Scopus:79960845287
ISSN
1090-2104
DOI
10.1016/j.bbrc.2011.06.154
language
English
LU publication?
no
id
b2bec49c-2602-4724-8990-2654166568d0
date added to LUP
2016-09-14 13:40:45
date last changed
2016-10-13 05:13:30
@misc{b2bec49c-2602-4724-8990-2654166568d0,
  abstract     = {<p>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.</p>},
  author       = {Ayed, Imen Ben and Chamkha, Imen and Mkaouar-Rebai, Emna and Kammoun, Thouraya and Mezghani, Najla and Chabchoub, Imen and Aloulou, Hajer and Hachicha, Mongia and Fakhfakh, Faiza},
  issn         = {1090-2104},
  keyword      = {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},
  language     = {eng},
  month        = {07},
  number       = {2},
  pages        = {6--381},
  publisher    = {ARRAY(0xebd5238)},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2011.06.154},
  volume       = {411},
  year         = {2011},
}