Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y
Department of Pediatrics, School of Medicine, University of Tokushima.
No To Hattatsu. 1996 Nov;28(6):495-500.
Lymphoblastoid cells are useful materials for the diagnosis and basic studies of many human genetic disorders. To elucidate the etiology of Leigh syndrome, biochemical analyses and mitochondrial DNA analyses were performed on cultured lymphoblastoid cells from 20 patients with the clinical characteristics of this disorder. In 9 of 20 cases, we were able to define the following defects. Eight patients had biochemical defects, including 3 with pyruvate dehydrogenase complex (PDHC), 3 with cytochrome c oxidase (complex IV), and 2 with NADH-cytochrome c reductase (complex I) deficiencies. Two of 3 patients with PDHC deficiency were diagnosed with thiamine-responsive PDHC deficiency. One patient had a point mutation (T-->G) of mitochondrial DNA at nucleotide position 8993. These results indicate that the underlying defects in Leigh syndrome are heterogeneous and cultured lymphoblastoid cells are very useful materials for diagnosis of the etiology of Leigh syndrome.
淋巴母细胞样细胞是用于诊断和许多人类遗传疾病基础研究的有用材料。为了阐明 Leigh 综合征的病因，对 20 例具有该疾病临床特征的患者的培养淋巴母细胞样细胞进行了生化分析和线粒体 DNA 分析。在 20 例中的 9 例中，我们能够确定以下缺陷。8 例患者存在生化缺陷，包括 3 例丙酮酸脱氢酶复合物（PDHC）缺陷、3 例细胞色素 c 氧化酶（复合物 IV）缺陷和 2 例 NADH - 细胞色素 c 还原酶（复合物 I）缺陷。3 例 PDHC 缺陷患者中有 2 例被诊断为硫胺素反应性 PDHC 缺陷。1 例患者线粒体 DNA 在核苷酸位置 8993 处发生点突变（T→G）。这些结果表明，Leigh 综合征的潜在缺陷是异质性的，培养的淋巴母细胞样细胞是诊断 Leigh 综合征病因的非常有用的材料。
