PMID: 10401001Jul 13, 1999Paper

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

Human Molecular Genetics
S M HoutenHans R Waterham


Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate kinase due to mutations in the encoding gene. Thus far, only two disease-causing mutations have been identified. We now report four different missense mutations including three novel ones, which were identified by sequence analysis of mevalonate kinase cDNA from three mevalonic aciduria patients. All mutations affect conserved amino acids. Heterologous expression of the corresponding mutant mevalonate kinases as fusion proteins with glutathione S -transferase in Escherichia coli showed a profound effect of each of the mutations on enzyme activity. In addition, immunoblot analysis of fibroblast lysates from patients using specific antibodies against mevalonate kinase identified virtually no protein. These results demonstrate that the mutations affect not only the activity but also the stability of the mutant proteins.


Jun 19, 1986·The New England Journal of Medicine·G HoffmannL Sweetman
Oct 31, 1985·Clinica Chimica Acta; International Journal of Clinical Chemistry·R BergerR le Coultre
Dec 20, 1996·The Journal of Biological Chemistry·S Subramani
Feb 28, 1997·The Journal of Biological Chemistry·D PotterH M Miziorko
Nov 5, 1997·The Journal of Biological Chemistry·D Potter, H M Miziorko
May 14, 1998·Archives of Disease in Childhood·P T Clayton
Jul 8, 1998·Proceedings of the National Academy of Sciences of the United States of America·B U FitzkyF F Moebius
Jul 31, 1998·American Journal of Human Genetics·H R WaterhamR J Wanders

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