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Arnold Munnich - One of the best experts on this subject based on the ideXlab platform.
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Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature
Journal of pediatric hematology oncology, 2009Co-Authors: Elena Maria Manea, Agnès Rötig, Guy Leverger, Francoise Bellmann, Popp Alina Stanescu, Adam Mircea, Anne-sophie Lebre, Arnold MunnichAbstract:Pearson Syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A revie
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & Nerve, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Arnold MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo. © 1995 John Wiley & Sons, Inc.
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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas Syndrome
Human molecular genetics, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Dominique Chretien, Arnold MunnichAbstract:The Pearson marrow-pancreas Syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson Syndrome and describe mitochondrial DNA deletions as consistent features in this Syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson Syndrome and in the ones who survived and developed Kearns-Sayre Syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
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Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi Syndrome and Pearson Syndrome
Pediatric Nephrology, 1994Co-Authors: Patrick Niaudet, Arnold Munnich, Laurence Heidet, Jacques Schmitz, François Bouissou, Marie Claire Gubler, Agnès RötigAbstract:We report a patient with Pearson Syndrome with failure to thrive, exocrine pancreas insufficiency, growth hormone deficiency and severe tubular dysfunction. The patient had no signs of liver involvement. Normal respiratory chain enzyme activity was found in the lymphocytes, but a mitochondrial DNA deletion was demonstrated in lymphocytes and in the kidney. Polymerase chain reaction amplification and sequence analysis revealed the presence of the 4,977 base pair “common” deletion in the mitochondrial genome. Our findings support the view that tubulopathies of unknown origin may be related to mitochondrial respiratory chain deficiency.
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3-Methylglutaconic aciduria associated with Pearson Syndrome and respiratory chain defects.
The Journal of pediatrics, 1992Co-Authors: Kenneth M. Gibson, Charles E. Mize, Michael J. Bennett, Cornelis Jakobs, Agnès Rötig, Arnold Munnich, Uta Lichter-konecki, Friedrich K. TrefzAbstract:3-Methylglutaconic aciduria was detected in four patients with Pearson Syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson Syndrome and may be a more specific marker than other organic acids identified in this disorder.
Agnès Rötig - One of the best experts on this subject based on the ideXlab platform.
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Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature
Journal of pediatric hematology oncology, 2009Co-Authors: Elena Maria Manea, Agnès Rötig, Guy Leverger, Francoise Bellmann, Popp Alina Stanescu, Adam Mircea, Anne-sophie Lebre, Arnold MunnichAbstract:Pearson Syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A revie
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Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson Syndrome.
European journal of medical genetics, 2008Co-Authors: Agnès Atale, Agnès Rötig, Patrizia Bonneau-amati, Alain Fischer, Stéphanie Perez-martin, Pascale De Lonlay, Patrick Niaudet, L De Parscau, Christiane Mousson, Christel Thauvin-robinetAbstract:Abstract Out of a series of 30 French patients with Pearson Syndrome, we report on two patients with an atypical presentation, which include growth deficiency, pancytopaenia, tubulopathy and absence of exocrine pancreas dysfunction. Patient 1, a 4-year-old boy with a past history of pancytopaenia and transient metabolic acidosis at 13 months of age, presented at 2½ years of age with severe tubulopathy of de Toni–Debre–Fanconi type, growth retardation, metabolic lactic acidosis and mild cytolysis. Despite normal exocrine pancreatic function, study of mitochondrial DNA revealed a 3.5 kb deletion. Patient 2 had a personal history of pancytopaenia requiring blood transfusions at 11 months of age and presented with severe intractable proximal and distal tubulopathy at 2 years of age. Exocrine pancreatic deficiency could not be evidenced and post-mortem studies revealed a 4.9 kb deletion of the mitochondrial DNA. A review of the literature revealed three patients presenting with Pearson Syndrome and tubulopathy with normal pancreatic function and highlights delay in diagnosis in those three patients. The series of 30 French patients with Pearson Syndrome also revealed that tubulopathy was present in 7/30 cases (23%), with variable outcome. In conclusion, Pearson Syndrome should be screened for in children presenting with the association of growth retardation, anaemia/pancytopaenia, lactic acidosis and tubulopathy, even in the absence of exocrine pancreatic deficiency.
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A case of Pearson Syndrome associated with multiple renal cysts.
Pediatric nephrology (Berlin Germany), 1996Co-Authors: Aytemiz Gurgey, Agnès Rötig, Imran Özalp, Ttorgay Coşkun, Gülsevin Tekinalp, Erdem G, Zuhal Akçören, Melda Çağlar, Aysin BakkalogluAbstract:A 41-day-old infant who had severe metabolic acidosis, anemia, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with Pearson Syndrome. Fibrosis in the liver, severe iron deposition in hepatocytes, and multiple renal cortical cysts were found on postmortem examination. Southern blot analysis of mitochondrial DNA obtained from peripheral blood revealed a heteroplasmic deletion of approximately 3.5 kilobases.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & Nerve, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Arnold MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo. © 1995 John Wiley & Sons, Inc.
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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas Syndrome
Human molecular genetics, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Dominique Chretien, Arnold MunnichAbstract:The Pearson marrow-pancreas Syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson Syndrome and describe mitochondrial DNA deletions as consistent features in this Syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson Syndrome and in the ones who survived and developed Kearns-Sayre Syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
T Bourgeron - One of the best experts on this subject based on the ideXlab platform.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & nerve. Supplement, 1995Co-Authors: A. Rötig, T Bourgeron, P Rustin, A MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & Nerve, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Arnold MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo. © 1995 John Wiley & Sons, Inc.
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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas Syndrome
Human molecular genetics, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Dominique Chretien, Arnold MunnichAbstract:The Pearson marrow-pancreas Syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson Syndrome and describe mitochondrial DNA deletions as consistent features in this Syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson Syndrome and in the ones who survived and developed Kearns-Sayre Syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
P Rustin - One of the best experts on this subject based on the ideXlab platform.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & nerve. Supplement, 1995Co-Authors: A. Rötig, T Bourgeron, P Rustin, A MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & Nerve, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Arnold MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo. © 1995 John Wiley & Sons, Inc.
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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas Syndrome
Human molecular genetics, 1995Co-Authors: Agnès Rötig, T Bourgeron, P Rustin, Dominique Chretien, Arnold MunnichAbstract:The Pearson marrow-pancreas Syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson Syndrome and describe mitochondrial DNA deletions as consistent features in this Syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson Syndrome and in the ones who survived and developed Kearns-Sayre Syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
A. Rötig - One of the best experts on this subject based on the ideXlab platform.
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Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson Syndrome.
Muscle & nerve. Supplement, 1995Co-Authors: A. Rötig, T Bourgeron, P Rustin, A MunnichAbstract:Pearson Syndrome is a fatal disorder involving the hematopoietic system and exocrine pancreas. Mitochondrial respiratory chain deficiencies and/or rearrangements of the mitochondrial DNA were consistently observed in all patients. We report here on the variant phenotypic expression of mitochondrial genotypes in cultured cells from a patient with Pearson Syndrome. Skin fibroblasts and lymphocytes harbored, respectively, 60% and 80% of deleted mtDNA molecules initially and displayed defective respiratory chain activities. In both cases, there was a progressive recovery of respiratory chain activities during in vitro cell proliferation due to the loss of deleted mtDNA molecules in cultured skin fibroblasts and to an increase in the mtRNA translation efficiency in Epstein-Barr virus-transformed lymphocytes. The present study suggests that various cellular responses to abnormal mitochondrial genotypes might contribute to the tissue-specific expression of mitochondrial disorders in vivo.
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Pearson Syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
Journal of inherited metabolic disease, 1993Co-Authors: Antonia Ribes, Encarnació Riudor, R. Valcárel, A. Salvá, F. Castelló, S. Murillo, C. Dominguez, A. Rötig, C. JakobsAbstract:Pearson Syndrome (McKusick 260560) is a multisystem disorder of mitochondrial energy metabolism. Fatal outcome is widely reported and is usually related to liver failure (Rotig et al 1990). We describe the case of a 3-year-old boy with Pearson Syndrome but with normal pancreatic, hepatic and renal function. Furthermore, he presents bilateral corneal opacity and hypoaldosteronism. In addition, altered Krebs' and urea-cycle metabolites were found
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Mitochondrial DNA deletion in an 8-year-old boy with Pearson Syndrome.
Journal of inherited metabolic disease, 1992Co-Authors: K. E. Baerlocher, A. Feldges, M. Weissert, H. J. Simonsz, A. RötigAbstract:Pearson Syndrome (PS) (McKusick 260560) is an often fatal disease of early childhood. We describe an 8-year-old boy with PS, who showed the typical haematological symptoms in early infancy. During his later course, increased CSF protein, ptosis and retinitis pigmentosa pointed to the Kearns-Sayre Syndrome, another mtDNA deletion disorder. Analysis of leukocyte mtDNA revealed a 5.5-kb mtDNA deletion similar to that found in at least five other patients with PS (Rotig et al 1990)