CHARACTERIZATION OF A POINT MUTATION IN THE PYRUVATE-DEHYDROGENASE E1-ALPHA-GENE FROM 2 BOYS WITH PRIMARY LACTIC ACIDEMIA

被引:16
作者
AWATA, H [1 ]
ENDO, F [1 ]
TANOUE, A [1 ]
KITANO, A [1 ]
MATSUDA, I [1 ]
机构
[1] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,KUMAMOTO 860,JAPAN
关键词
D O I
10.1007/BF00711616
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We report here a novel mutation in the codon for amino acid 263 resulting in the change from arginine to glutamine in the pyruvate dehydrogenase (PDH) E1 alpha gene, in two boys with primary lactic acidaemia, from independent families. The mutation changes an amino acid located between the two serine residues which are the sites of phosphorylation of the subunit protein. In one family, the mutation was de novo and in the other it was transmitted from mother to son. The amino acid substitution may affect function of the PDH complex via phosphorylation and dephosphorylation of the E1 alpha subunit. Derangement in the regulation of activity of the PDH complex may explain the primary lactic acidaemia in the patients.
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页码:189 / 195
页数:7
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