A case of PDH-E1α mosaicism in a male patient with severe metabolic lactic acidosis
A case of PDH-E1α mosaicism in a male patient with severe metabolic lactic acidosis
复制标题
严重代谢性乳酸酸中毒男性患者PDH-E1α嵌合一例
DOI：
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发表时间：
2001
影响因子：
4.2
通讯作者：
B. Robinson
中科院分区：
文献类型：
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作者：
A. Seyda;K. Chun;S. Packman;B. Robinson
We have characterized a novel mutation in a male patient that affects the coding sequence of PDH-E1α gene and changes arginine-141 to a leucine. This nucleotide substitution was found in about 75% of the studied DNA (fibroblasts, liver and muscle), a scenario that would indicate a case of E1α mosaicism in a male patient. When the mutant E1α protein was expressed in human skin fibroblasts with zero endogenous pyruvate dehydrogenase complex activity and E1α protein expression, no significant restoration of activity was recorded, in contrast to the wild-type cDNA, even though both wild-type and mutant protein levels were comparable. We concluded that the R141L mutation is a severe one and that it must have occurred in one of the E1α alleles during early embryogenesis.
5-磷酸吡哆醛对哺乳动物丙酮酸脱氢酶的活性位点进行修饰。
影响因子：
2.9
作者：
Stepp,LR;Reed,LJ
通讯作者：
Reed,LJ
影响因子：
5.8
作者：
Lahvis, GP;Bradfield, CA
通讯作者：
Bradfield, CA