Abstract:
:Pearson's syndrome, a rare and fatal disorder characterized by refractory sideroblastic anemia and pancreatic insufficiency in infancy, is classified into mitochondrial cytopathies. To understand the molecular and genetic bases of this disorder, we have investigated the mitochondrial respiratory chain enzymes and the mitochondrial DNA (mtDNA) in two Japanese patients with Pearson's syndrome. Immunoblot analysis from various tissues showed the different grades of defects in the subunits of respiratory enzyme complexes. The analyses of mtDNA showed that the deletion in patient 1 spanned 4977 bp from the ATPase 8 gene to the NADH dehydrogenase 5 gene between 13-bp direct repeats, whereas the deletion in patient 2 spanned 3151 bp from the transfer RNA(His) gene to the cytochrome b gene unrelated to any repeated sequences. The deleted mtDNA was heteroplasmic in all the analyzed tissues, but the proportions of deleted mtDNA were quite different. We observed a tendency for the tissue with low percentages of normal-sized mtDNA to show low contents of complex I subunits. Analysis of the entire sequence of both patient's mtDNA showed several nucleotide substitutions including alteration of the initiation codon of the NADH dehydrogenase 5 gene. Some of these nucleotide substitutions might contribute to the phenotypic expression of Pearson's syndrome synergistically with the deletion.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Sano T,Ban K,Ichiki T,Kobayashi M,Tanaka M,Ohno K,Ozawa Tdoi
10.1203/00006450-199307000-00024subject
Has Abstractpub_date
1993-07-01 00:00:00pages
105-10issue
1eissn
0031-3998issn
1530-0447journal_volume
34pub_type
杂志文章abstract::We have shown that vitamin A (VA) and retinoic acid (RA) synergistically increase lung retinyl ester content in neonatal rats. To confirm whether this biochemical synergism attenuates early neonatal hyperoxic lung injury in mice, we exposed newborn C57BL/6 mice to 95% O2 or air from birth to 4 d. The agent [vehicle, V...
journal_title:Pediatric research
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doi:10.1203/PDR.0b013e3181dbac3d
更新日期:2010-06-01 00:00:00
abstract::We studied the effects of exogenously administered adrenomedullin on fetal pulmonary arterial blood flow in near-term fetal sheep. The hemodynamic effects of a single injection of adrenomedullin into the left pulmonary artery were compared with those of acetylcholine; the effects of repeated injections of adrenomedull...
journal_title:Pediatric research
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doi:10.1203/00006450-199704000-00007
更新日期:1997-04-01 00:00:00
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journal_title:Pediatric research
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doi:10.1038/s41390-020-0839-0
更新日期:2020-12-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199611000-00014
更新日期:1996-11-01 00:00:00
abstract::Early detection of developmental delay and childhood disorders are important for early intervention. This study aimed to describe the distribution of responses in a large population-based survey, identify cutoff points for the parent concern checklist (PCC) suitable for the Chinese language and culture, and explore ho...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181c8ed3d
更新日期:2010-02-01 00:00:00
abstract::The purpose of this project was to study the role of lipid peroxidation in oxygen-induced lung injury in the newborn lamb. It was our hypothesis that injury to the microvascular bed of the lung by oxygen would coincide with a burst of peroxidative activity and would be accompanied by an increased rate of excretion of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199012000-00014
更新日期:1990-12-01 00:00:00
abstract::Tracheal epithelial cells obtained from adult and infant ferrets were grown in primary culture in vitro. Cells from adult animals grew readily, and many ciliated cells were observed in the cultures. Successful cultures were derived from infant animals, but cell number in infant and adult cultures began to decrease aft...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199107000-00016
更新日期:1991-07-01 00:00:00
abstract::A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00023
更新日期:1990-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199911000-00003
更新日期:1999-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198505000-00008
更新日期:1985-05-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.176
更新日期:2013-03-01 00:00:00
abstract::Gastrointestinal (GI) blood flow, O2 transport, and O2 uptake were measured during recovery from severe hypoxemia in newborn piglets. Hypoxemia was induced by lowering the inspired O2 concentration to 0.05 for 15 min. This resulted in an 82% decrease in GI O2 uptake. Recovery measurements were obtained 5 and 65 min af...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198511000-00017
更新日期:1985-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199410000-00007
更新日期:1994-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-1052-x
更新日期:2020-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197611000-00002
更新日期:1976-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000050122.67091.1D
更新日期:2003-03-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000214993.82214.1c
更新日期:2006-05-01 00:00:00
abstract::Myocardial oxygen demand may be increased in chronically hypoxemic lambs because of their increased heart rate. Therefore, we determined whether left ventricular (LV) oxygen supply, oxygen uptake and oxygen demand were proportionally increased in 6-wk-old lambs, after 4 wk of hypoxemia (n = 15), as compared with contr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00017
更新日期:1993-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198309000-00012
更新日期:1983-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199511000-00015
更新日期:1995-11-01 00:00:00
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journal_title:Pediatric research
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197912000-00001
更新日期:1979-12-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200006000-00019
更新日期:2000-06-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.177
更新日期:2017-01-01 00:00:00
abstract::Antigenic analysis of neuroblastoma cells was performed by autologous typing and indirect immunofluorescent test combined with absorption tests. Serum of a patient with neuroblastoma before treatment showed weak reactivity with cultured autologous neuroblastoma cells, while serum obtained from the same patient 3 month...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00001
更新日期:1986-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181b1bc19
更新日期:2009-09-01 00:00:00
abstract::Previous studies in adults have shown that chronic pulmonary hypertension is associated with decreased endothelial nitric oxide synthase (eNOS) expression in pulmonary arteries. However, the role of decreased eNOS expression in persistent pulmonary hypertension of the newborn (PPHN) is unknown. We investigated the hyp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199809000-00012
更新日期:1998-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198508000-00011
更新日期:1985-08-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198205000-00014
更新日期:1982-05-01 00:00:00
abstract::Changes in high-density lipoprotein (HDL) subclass distribution were evaluated in a group of premature infants during the early postnatal period to ascertain whether enteral feeding brought about a rapid shift from neonatal to adult-like distributions. All infants were fed a combination of breast milk and formula. Cor...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198806000-00001
更新日期:1988-06-01 00:00:00