title: Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
abstract: Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and abnormal oxidative phosphorylation in lymphocytes led us to postulate that Pearson's syndrome belongs to the group of mitochondrial cytopathies. Since rearrangements of the mitochondrial genome between direct DNA repeats were consistently found in all tissues tested, our results show that this disease is in fact a multisystem mitochondrial disorder, as suggested by the clinical course of the patients. Based on these observations, we would suggest giving consideration to the hypothesis of a defect of oxidative phosphorylation in elucidating the origin of other syndromes, especially those associated with an abnormal oxidoreduction status in plasma.
authors.affiliation: Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: V
authors.initials: V
authors.lastname: Cormier
authors.forename: S
authors.initials: S
authors.lastname: Blanche
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: F
authors.initials: F
authors.lastname: Ledeist
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: J
authors.initials: J
authors.lastname: Schmitz
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000756:Anemia, Sideroblastic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D010084:Oxidation-Reduction; D010085:Oxidative Phosphorylation; D012091:Repetitive Sequences, Nucleic Acid; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial