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Pearson syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Hepatic dysfunction is another feature of Pearson syndrome. In the initial series, the first patient, who died at 26 months, had fatty infiltration of the liver; the second died of hepatic decompensation, and the liver at autopsy showed fat deposits, but no cirrhosis. A number of other patients have died in infancy of hepatic insufficiency [18]. Patients recovering from the marrow dysfunction may develop evidence of hepatic disease manifested by elevated transaminases, lactic dehydrogenase, and hypoprothrombinemia resistant to vitamin K. There may be jaundice.
Mitochondrial Dysfunction, Immune Systems, Their Diseases, and Possible Treatments
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Elise Jacquin, Eric Hervouet, Michaël Boyer-Guittaut
These data open avenues for the development of new treatments using the transfer of healthy mitochondria into target cells in vitro or in vivo in order to increase their function, activity and survival. This new protocol would be particularly interesting when using methods requiring the transfer of immune cells. This has already been tested in a protocol considering the transfer of healthy mitochondria to treat Non-Inherited Mitochondrial disorders, such as the Pearson Syndrome. This syndrome is linked to a deletion of mtDNA leading to a deficit in the function of the ETC. The symptoms are refractory sideroblastic anemia and vacuolization of bone marrow precursors. In this new line of treatment, autologous hematopoietic peripheral stem cells (CD34+) were enriched with normal and healthy mitochondria obtained from healthy donor blood cells before their reinjection into the patient (Clinicaltrials.gov, NCT03384420). The aim of this study was to assess the level of normal mitochondrial DNA present in the patient CD34+ cells after enrichment with normal mitochondria (Figure 2B.2).
Mitochondrial DNA Mutations and Mitochondrial Diseases
Published in Sara C. Zapico, Mechanisms Linking Aging, Diseases and Biological Age Estimation, 2017
Pearson Syndrome is a rare disorder of infancy that affects hematopoiesis and exocrine pancreatic function. The most common clinical features are usually sideroblastic anemia with vacuolization of bone marrow precursors, associated with exocrine pancreatic dysfunction. In addition, they tend to develop progressive liver failure, intestinal villus atrophy, diabetes mellitus and renal tubular dysfunction (Leonard and Schapira 2000). The clinical course in these children can be severe leading to early death. In those that survive, the blood disorder improves but they later develop the clinical features of Kearns-Sayre phenotype. In these children, there is a very high level of large-scale single mtDNA deletion present in all tissues, which are generally sporadic, but there are some cases of maternal inheritance (Rotig et al. 1990).
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Tatiana N. Yuzyuk, Heather A. Nelson, Lisa M. Johnson
The high frequency of pancreatic manifestations differentiates Pearson syndrome from other mitochondrial disorders, although it is still unclear why the pancreas is one of the first organs impacted by mtDNA loss. A microscopic analysis of pancreatic tissue from patients with Pearson syndrome revealed extensive fibrosis and loss of acinar cells [51]. Cellular damage in Pearson syndrome leads to the early development of EPI, manifesting with diarrhea, malabsorption, and failure to thrive [52–54]. Pancreatitis has also been reported in older children with Pearson syndrome. The diagnosis of EPI has been historically confirmed by the measurement of fecal fat content [50], but FPE testing should also be considered [54,59]. Management of EPI requires supplementation with pancreatic enzymes and fat-soluble vitamins. Additional supplementation with L-carnitine and coenzyme Q is often prescribed to support the enzymes of the mitochondrial electron transport chain [52,60,61].
Improving post-natal detection of mitochondrial DNA mutations
Published in Expert Review of Molecular Diagnostics, 2020
Giulia Barcia, Zahra Assouline, Maryse Magen, Alessandra Pennisi, Agnès Rötig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
Deletions of the mitochondrial genome have been identified in patients affected by Pearson syndrome (a fatal disorder involving the hematopoietic system and the exocrine pancreas in early infancy), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (a chronic progressive external ophthalmoplegia, with atypical retinitis pigmentosa, proximal muscle weakness, cerebellar ataxia, and cardiac conduction defects) [12,13]. These deletions are of various size and map to different sites in the mtDNA, but a recurrent 5-kilobase deletion is frequently found (Figure 1(a)). Patients carry a unique mtDNA deletion, sometimes associated to duplications. The mtDNA deletion is usually restricted to the skeletal muscle in patients with clinical signs of KSS but is widely distributed in all tissues tested from patients with Pearson syndrome. A common strategy based on long-range PCR amplifying the complete mitochondrial genome (16.6 kb) using primers located in essential regions of the mitochondrial genome is commonly used for detection and characterization of mtDNA rearrangements. However, false positives are not rare and positive results should be confirmed by Southern-blot analysis. Novel NGS methods seem able to characterize efficiently mtDNA deletions and duplications but specific bioinformatic pipeline is required for NGS data analysis [14,15].
Pearson syndrome
Published in Expert Review of Hematology, 2018
Piero Farruggia, Floriana Di Marco, Carlo Dufour
About 10 years after its first description in 1979 [1], Pearson syndrome (PS) was known to belong to a group of disorders known as mitochondriopathies [2,3]. To date, fewer than 150 cases of PS have been reported, with only 3 studies on more than 10 patients [4–6].