Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach

Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach
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DOI:
10.2169/internalmedicine.43.1126
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发表时间:
2004-12-01
期刊:
影响因子:
1.2
通讯作者:
Kuriyama, M
Kuriyama, M
中科院分区:
医学4区
文献类型:
--
作者:
Fujii, A;Yoneda, M;Kuriyama, M

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目的分析胃症状、餐后恶心/呕吐和胃脘痛患者胃线粒体3243位A-G突变(A3243 G)在胃内的累积情况及与胃运动的关系。采用胃电图(EGG)检测胃运动功能,用餐前、餐后血浆对乙酰氨基酚(paracetamol,PA)浓度测定胃排空功能,对4例白细胞线粒体DNA(mtDNA)A3243 G突变患者进行检测(69-94%的突变;平均值,83%)比在角部分(37-82%;平均52%),胃窦(40-84%;平均57%)或白细胞(28-52%;平均值,39%),并且在所检查的四名患者中,百分比略高于骨骼肌(45-87%;平均值,70%)或口腔粘膜(52-86%;平均值,69%)。在检查的三名患者中观察到异常EGG。这些患者的餐前肌电活动较低(患者1为49%,患者2为54%,患者3为63%;正常>70%)。扑热息痛的血浆浓度较低(患者1为3.6 μ g/ml,患者2为2.4 μ g/ml,
Objective We analyzed the accumulation of a mitochondrial A-to-G mutation at nucleotide position 3243 (A3243G) in the stomach and gastric motility in patients with gastric symptoms, post-prandial nausea/vomiting and epigastralgia.Methods Detection and quantification of A3243G mutation in mtDNA in the gastric mucosa, oral mucosa, leukocyte, and skeletal muscle were performed. Gastric motility was evaluated by gastric myoelectrical activity on electrogastrography (EGG), and gastric emptying was evaluated by measurement of plasma paracetamol concentration before and after meals.Patients or Materials Four patients with A3243G mutation in the leukocyte mtDNA and gastric symptoms were examined.Results The A3243G mutation was detected at higher percentages in the gastric body (69-94% for mutation; mean, 83%) than in the angle portion (37-82%; mean, 52%), the antrum (40-84%; mean, 57%) or leukocytes (28-52%; mean, 39%), and at slightly higher percentages than in the skeletal muscles (45-87%; mean, 70%) or oral mucosae (52-86%; mean, 69%) in the four patients examined. Abnormal EGGs were observed in the three patients examined. The pre-prandial myoelectrical activities were low in these patients (49% in patient 1, 54% in patient 2, 63% in patient 3; normal >70%). The plasma concentrations of paracetamol were low (3.6 mug/ml in patient 1, 2.4 mug/ml in patient 2,