Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Pearson syndrome is characterised by a very high level of large-scale single mtDNA deletion present in all tissues.
“In these children, there is a very high level of large-scale single mtDNA deletion present in all tissues [108].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [108]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works
Isolation of mononuclear cells and granulocytes from human blood.
Bøyum, A. (1968) · Scandinavian Journal of Clinical and Laboratory Investigation · Cited by 9,629 · see citing works
AN ELECTRON-TRANSPORT SYSTEM ASSOCIATED WITH THE OUTER MEMBRANE OF LIVER MITOCHONDRIA
Sottocasa, G. L., Kuylenstierna, B., Ernster, L., & Bergstrand, A. (1967) · The Journal of Cell Biology · doi:10.1083/jcb.32.2.415 · Cited by 2,316 · see citing works
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,845 · see citing works
Maternal inheritance of human mitochondrial DNA.
Giles, R. E., Blanc, H., Cann, H. M., & Wallace, D. C. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.11.6715 · Cited by 1,365 · see citing works
Muscle Biopsy: A Modern Approach
Tsairis, P. (1974) · Archives of Neurology · doi:10.1001/archneur.1974.00490380091018 · Cited by 1,356 · see citing works
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome
Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., & Rowland, L. P. (1988) · Neurology · doi:10.1212/wnl.38.9.1339 · Cited by 735 · see citing works
Albertini, A. M., Hofer, M., Calos, M. P., & Miller, J. H. (1982) · Cell · doi:10.1016/0092-8674(82)90148-9 · Cited by 672 · see citing works
Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., & DiDonato, S. (1989) · Nature · doi:10.1038/339309a0 · Cited by 636 · see citing works
The syndrome of pancreatic insufficiency and bone marrow dysfunction
Shwachman, H., Diamond, L. K., Oski, F. A., et al. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80150-5 · Cited by 576 · see citing works
A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA
Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M., & DiMauro, S. (1989) · Science · doi:10.1126/science.2711184 · Cited by 569 · see citing works
Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., & Marsh, J. C. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80286-3 · Cited by 440 · see citing works
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome
Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., & Rowland, L. P. (1988) · Neurology · doi:10.1212/wnl.38.8.1339 · Cited by 370 · see citing works
KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION
Lestienne, P. P., & Ponsot, G. (1988) · The Lancet · doi:10.1016/s0140-6736(88)91632-7 · Cited by 300 · see citing works
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
Rötig, A., Colonna, M., Bonnefont, J., Blanche, S., Fischer, A., Saudubray, J., & Münnich, A. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92897-3 · Cited by 260 · see citing works
Self-citationErlich, H. A., Gelfand, D. H., & Saiki, R. K. (1988) · Nature · doi:10.1038/331461a0 · Cited by 254 · see citing works
Mitochondrial DNA mutations and neuromuscular disease
Wallace, D. C. (1989) · Trends in Genetics · doi:10.1016/0168-9525(89)90005-x · Cited by 209 · see citing works
DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY
Poulton, J., Deadman, M. E., & Gardiner, R. M. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91256-7 · Cited by 202 · see citing works
Bookelman, H., Trijbels, J. M. F., Sengers, R. C. A., & Janssen, A. J. M. (1978) · Biochemical Medicine · doi:10.1016/0006-2944(78)90037-6 · Cited by 137 · see citing works
Nakase, H., Moraes, C. T., Rizzuto, R., Lombès, A., DiMauro, S., & Schon, E. A. (1990) · PubMed · Cited by 132 · see citing works
Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.12.4465 · Cited by 101 · see citing works
Relationship between immunoglobulin production and immortalization by Epstein Barr virus.
Tosato, G., Blaese, R. M., & Yarchoan, R. (1985) · The Journal of Immunology · doi:10.4049/jimmunol.135.2.959 · Cited by 99 · see citing works
Mazerolles, F., Lumbroso, C., Lecomte, O., et al. (1988) · European Journal of Immunology · doi:10.1002/eji.1830180813 · Cited by 49 · see citing works
Stoddard, R. A., McCurnin, D., Shultenover, S. J., et al. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80470-2 · Cited by 30 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Giles, R. E., H. Blanc, H. M. Cann, and D. C. Wallace. 1980. Maternal inheritance ofhuman mitochondrial DNA. Proc. Natl. Acad. Sci. USA. 77:6715-6719.
Cited by
Sorted by citations
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · see citing works
Self-citationMitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS
Larsson, N.-G., & Clayton, D. A. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.001055 · Cited by 493 · see citing works
Sankaran, V. G., Orkin, & Walkley, C. R. (2008) · Genes & Development · doi:10.1101/gad.1627208 · Cited by 133 · see citing works
Genetic features of mitochondrial respiratory chain disorders
Rötig, A., & Munnich, A. (2003) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000095481.24091.c9 · Cited by 82 · see citing works
Self-citationMitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript
Alemi, M., Prigione, A., Wong, A., Schoenfeld, R., DiMauro, S., Hirano, M., Taroni, F., & Cortopassi, G. (2007) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2006.09.014 · Cited by 50 · see citing works
- Authors
- Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M.
- Affiliations
- Inserm (FR)
- Venue
- Journal of Clinical Investigation
- Published
- 1990-11-01
- Volume
- 86
- Issue
- 5
- Pages
- 1601-1608
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC296909
- OpenAlex
- W2019039833
- Cited by
- 461
- References
- 24
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 9 · 2023: 7 · 2022: 8 · 2021: 12 · 2020: 7 · 2019: 10 · 2018: 8 · 2017: 7 · 2016: 10 · 2015: 13 · 2014: 11 · 2013: 9 · 2012: 8
- FWCI
- 8.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- mitochondrial disease, mitochondrial genome rearrangement, oxidative phosphorylation defects, lactate/pyruvate ratio, exocrine pancreatic insufficiency, hematopoietic failure, infancy
- MeSH terms
- Anemia, Sideroblastic, Base Sequence, Chromosome Deletion, DNA, Mitochondrial, Female, Humans, Infant, Newborn, Male, Mitochondria, Molecular Sequence Data, Oxidation-Reduction, Oxidative Phosphorylation, Exocrine Pancreatic Insufficiency, Repetitive Sequences, Nucleic Acid, Syndrome, Blotting, Southern, Gene Rearrangement
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
