Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
Open Access
- 1 November 1990
- journal article
- case report
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 86 (5), 1601-1608
- https://doi.org/10.1172/jci114881
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.Keywords
This publication has 20 references indexed in Scilit:
- Mitochondrial DNA mutations and neuromuscular diseaseTrends in Genetics, 1989
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionNature, 1989
- MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROMEThe Lancet, 1989
- The role of lymphocyte function‐associated antigen 1 (LFA‐1) in the adherence of T lymphocytes to B lymphocytesEuropean Journal of Immunology, 1988
- Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonateThe Journal of Pediatrics, 1981
- Sequence and organization of the human mitochondrial genomeNature, 1981
- Maternal inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences of the United States of America, 1980
- A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunctionThe Journal of Pediatrics, 1979
- AN ELECTRON-TRANSPORT SYSTEM ASSOCIATED WITH THE OUTER MEMBRANE OF LIVER MITOCHONDRIAThe Journal of cell biology, 1967
- The syndrome of pancreatic insufficiency and bone marrow dysfunctionThe Journal of Pediatrics, 1964