Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
复制标题
皮尔逊骨髓胰腺综合征。
DOI：
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发表时间：
1990
影响因子：
15.9
通讯作者：
J. Saudubray
中科院分区：
文献类型：
--
作者：
A. Rötig;V. Cormier;S. Blanche;J. Bonnefont;F. Ledeist;Norma B. Romero;J. Schmitz;P. Rustin;Anne‐Marie Fischer;J. Saudubray
皮尔逊氏骨髓-胰腺综合征（McKusick No. 26056）是一种病因不明的致死性疾病，涉及造血系统、外分泌胰腺、肝脏和肾脏。观察到血浆中乳酸/丙酮酸摩尔比高，淋巴细胞氧化磷酸化异常，我们假设皮尔逊综合征属于线粒体细胞病变。由于在所有测试的组织中都一致发现直接DNA重复序列之间的线粒体基因组重排，我们的结果表明，正如患者的临床过程所表明的那样，这种疾病实际上是一种多系统线粒体疾病。基于这些观察，我们建议在解释其他综合征的起源时考虑氧化磷酸化缺陷的假设，特别是那些与血浆中异常氧化还原状态相关的综合征。
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.
卡恩斯-塞尔综合征中删除的线粒体基因组的转录和翻译：对发病机制的影响。
影响因子：
9.8
作者：
Nakase,H;Moraes,CT;Rizzuto,R;Lombes,A;DiMauro,S;Schon,EA
通讯作者：
Schon,EA
DOI：
10.1073/pnas.77.11.6715
发表时间：
1980-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
GILES, RE;BLANC, H;WALLACE, DC
通讯作者：
WALLACE, DC