AI Article Synopsis
- - A patient with hematuria exhibited thymine-uraciluria and had very low dihydropyrimidine dehydrogenase (DPD) activity in comparison to healthy controls.
- - Genetic analysis revealed the patient was compound heterozygous for two novel mutations in the DPYD gene: 237C > A (C79X) causing a non-functional protein and 704G > A (R235Q).
- - The C79X mutation results in a premature stop in protein production, while the R235Q mutation may disrupt how the enzyme binds to important molecules, affecting its function.
Article Abstract
A patient with hematuria was shown to have thymine-uraciluria. The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h. Analysis of DPYD showed that the patient was compound heterozygous for the novel mutations 237C > A (C79X) in exon 4 and 704G > A (R235Q) in exon 7. The nonsense mutation (C79X) leads to premature termination of translation and thus to a non-functional protein. Analysis of the crystal structure of pig DPD suggested that the R235Q mutation might interfere with the binding of FAD and the electron flow between the NADPH and the pyrimidine substrate site of DPD.
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| http://dx.doi.org/10.1080/15257770802146247 | DOI Listing |
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