133:, the deletions of mitochondrial DNA with Pearson syndrome range in size from 1.1 to 10 kilobases. A common mtDNA deletion associated with Pearson syndrome is the deletion of 4977 bp. This deletion has been labeled as m.8470_13446del4977. Diagnosing Pearson syndrome utilizes leukocyte DNA with the Southern Blot analysis. This type of mitochondrial DNA deletion is normally more abundant and easily isolated in the blood than in any other tissue type.
205:
114:
125:
Pearson syndrome consists of mtDNA deletions that differ in size and location compared to other mtDNA disorders such as chronic progressive ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS). The deletions in these molecules are usually spontaneous and normally include one or more tRNA genes.
121:
Pearson syndrome is a mitochondrial disease caused by a deletion in mitochondrial DNA (mtDNA). An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA
217:
To diagnose
Pearson syndrome a physician can either collect a bone marrow biopsy and look for sideroblastic anemia, a symptom of Pearson Syndrome, or measure the fat content in a feces sample. Genetic testing is also an option in which identifying mutations in mitochondrial DNA, specifically
273:
Pearson, Howard A.; Lobel, Jeffrey S.; Kocoshis, Samuel A.; Naiman, J. Lawrence; Windmiller, Joan; Lammi, Ahti T.; Hoffman, Ronald; Marsh, John C. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction".
638:"A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome"
771:
141:
Pearson syndrome is classified as a mitochondrial disease because it consists of several overlapping syndromes that are caused by mutations of mitochondrial DNA. Specifically, Pearson syndrome is a combination of syndromes that involves the
230:
is the first company to conduct a designated clinical trial for treating patients affected by this disease. In
December 2022 researchers at Minova reported modest results in five patients affected by either Pearson syndrome or
243:
Pearson syndrome was initially characterized in 1979 as a fatal disorder that affects infants. It has now been identified as a rare condition that affects multiple systems. The symptoms of
Pearson syndrome are
623:
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122:
molecules in each mitochondrion. With mitochondrial disorders caused by defects in the mtDNA, the severity of the disease depends on the number of mutant mtDNA molecules present in the cells.
513:. In Pagon, Roberta A; Adam, Margaret P; Ardinger, Holly H; Wallace, Stephanie E; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D; Fong, Chin-To; Smith, Richard JH; Stephens, Karen (eds.).
406:
Roberts, Roland G.; Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K.; Craigen, William J.; Schmitt, Eric S.; Wong, Lee-Jun C. (2010).
357:
Kefala-Agoropoulou, Kalomoira; Roilides, Emmanuel; Lazaridou, Anna; Karatza, Eliza; Farmaki, Evangelia; Tsantali, Haido; Augoustides-Savvopoulou, Persephone; Tsiouris, John (2007).
622:
U.S. Department of Health and Human
Services, National Institutes of Health, Genetic and Rare Diseases Information Center (updated in 2016). Pearson’s Syndrome. Retrieved from:
1107:
105:
Pearson syndrome is a very rare mitochondrial disorder characterized by health conditions such as sideroblastic anemia, liver disease and exocrine pancreas deficiency.
879:
309:
Rotig, A; Colonna, M; Bonnefont, J.P; Blanche, S; Fischer, A; Saudubray, J.M; Munnich, A (1989). "Mitochondrial DNA deletion in
Pearson's marrow/pancreas syndrome".
465:
van den
Ouweland, J M W; de Klerk, J B C; van de Corput, M P; Dirks, R W; Raap, A K; Scholte, H R; Huijmans, J G M; Hart, L M; Bruining, G J; Maassen, J A (2000).
624:
https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome#:~:text=Diagnosis%20of%20Pearson%20syndrome%20is,therapy%2C%20and%20treatment%20of%20infections
980:
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The syndrome was first described by pediatric hematologist and oncologist Howard
Pearson in 1979; the deletions causing it were discovered a decade later.
201:
Individuals with this condition have difficulty absorbing nutrients from their diet. Infants with this condition generally do not grow nor gain weight.
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Even though prenatal testing for
Pearson syndrome is theoretically possible, analyzing and interpreting the results would be extremely difficult.
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688:"Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes"
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467:"Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome"
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Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, Pearson's marrow/pancreas syndrome
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1029:
63:
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232:
83:
94:. Pearson syndrome is very rare: fewer than a hundred cases have been reported in medical literature worldwide.
197:. Pearson syndrome causes the exocrine pancreas to fail to function properly because of scarring and atrophy.
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82:. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of
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Currently there are no approved therapies for
Pearson syndrome and patients rely on supportive care.
44:
541:
408:"Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes"
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anemia. With the pancreas not functioning properly, high levels of fat may develop in the liver (
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Pearson
Syndrome research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
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Pearson marrow–pancreas syndrome (PMPS) is a condition that presents with severe
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179:. In Pearson syndrome the bone marrow fails to produce white blood cells called
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deletions or duplications, would confirm the diagnosis of Pearson syndrome.
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522:
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359:"Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene"
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162:). PMPS can also lead to diabetes and scarring of the pancreas.
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183:. The syndrome also leads to anemia, low platelet count and
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663:"Moms' mitochondria may refresh cells in sick kids"
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686:Jacoby, Elad; et al. (21 December 2022).
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560:http://marrowfailure.cancer.gov/PEARSON.html
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189:transient erythroblastopenia of childhood
51:dysfunction. Other clinical features are
1108:Syndromes affecting the endocrine system
636:Minovia Therapeutics Ltd. (2020-06-21).
112:
265:
511:"Mitochondrial DNA Deletion Syndromes"
517:. Seattle: University of Washington.
7:
835:Mitochondrial DNA Deletion Syndromes
78:impairment, and, frequently, early
542:"Pearson marrow-pancreas syndrome"
471:European Journal of Human Genetics
14:
509:; Hirano, Michio (May 3, 2011).
150:Pearson marrow–pancreas syndrome
963:Mitochondrial encephalomyopathy
580:Nelson's Textbook of Pediatrics
692:Science Translational Medicine
1:
742:GeneReviews: Pearson syndrome
323:10.1016/S0140-6736(89)92897-3
288:10.1016/S0022-3476(79)80286-3
704:10.1126/scitranslmed.abo3724
433:10.1371/journal.pone.0015687
146:and the exocrine pancreas.
1124:
582:. Elsevier. p. 1652.
578:Kliegman, Stanton (2011).
187:. It may be confused with
129:With the use of molecular
64:insulin-dependent diabetes
1103:Syndromes affecting blood
1068:
376:10.1080/10245330701400900
276:The Journal of Pediatrics
1058:Mohr–Tranebjærg syndrome
1030:Kjer's optic neuropathy
897:Carbohydrate metabolism
546:Genetics Home Reference
484:10.1038/sj.ejhg.5200444
246:mitochondrial cytopathy
70:pancreatic deficiency,
1093:Mitochondrial diseases
1073:mitochondrial proteins
889:Mitochondrial diseases
209:
118:
233:Kearns–Sayre syndrome
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137:Mitochondrial disease
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84:Kearns–Sayre syndrome
41:mitochondrial disease
228:Minovia Therapeutics
86:. It is caused by a
45:sideroblastic anemia
424:2010PLoSO...515687S
810:External resources
747:2007-04-18 at the
642:ClinicalTrials.gov
565:2014-10-12 at the
558:Pearson Syndrome.
507:DiMauro, Salvatore
210:
119:
1080:
1079:
990:No primary system
855:
854:
698:(676): eabo3724.
171:Defining features
160:hepatic steatosis
156:reticulocytopenic
92:mitochondrial DNA
53:failure to thrive
43:characterized by
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16:Medical condition
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1007:Pearson syndrome
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317:(8643): 902–3.
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185:aplastic anemia
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117:Mitochondria
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101:Presentation
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1016:Chromosomal
830:GeneReviews
647:20 December
548:. May 2013.
515:GeneReviews
250:neutropenia
208:Neutrophils
181:neutrophils
144:bone marrow
27:Other names
1087:Categories
949:Myopathies
919:Primarily
795:DiseasesDB
672:2023-01-09
363:Hematology
260:References
76:neurologic
57:pancreatic
1071:see also
819:eMedicine
720:254998216
612:eMedicine
222:Treatment
213:Diagnosis
841:Orphanet
824:ped/1750
745:Archived
712:36542693
563:Archived
523:20301382
493:10780785
452:21187929
412:PLOS ONE
393:19167784
385:17852457
339:40198120
195:Pancreas
109:Genetics
88:deletion
68:exocrine
60:fibrosis
49:pancreas
779:: D64.0
443:3004954
420:Bibcode
331:2564980
239:History
1052:TIMM8A
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311:Lancet
296:501502
294:
252:, and
72:muscle
1038:SARS2
1002:MNGIE
974:MERRF
969:MELAS
800:32159
716:S2CID
389:S2CID
335:S2CID
177:Blood
80:death
62:with
39:is a
1024:OPA1
981:CPEO
939:NARP
934:LHON
910:PDHA
784:OMIM
708:PMID
649:2023
584:ISBN
519:PMID
489:PMID
448:PMID
381:PMID
327:PMID
292:PMID
74:and
66:and
997:DAD
957:KSS
905:PCD
846:699
772:ICD
700:doi
610:at
479:doi
438:PMC
428:doi
371:doi
319:doi
284:doi
90:in
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