[HTML][HTML] High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and …
BN Ames, I Elson-Schwab, EA Silver - The American journal of clinical …, 2002 - Elsevier
As many as one-third of mutations in a gene result in the corresponding enzyme having an
increased Michaelis constant, or K m,(decreased binding affinity) for a coenzyme, resulting
in a lower rate of reaction. About 50 human genetic dis-eases due to defective enzymes can
be remedied or ameliorated by the administration of high doses of the vitamin component of
the corresponding coenzyme, which at least partially restores enzymatic activity. Several
single-nucleotide polymorphisms, in which the variant amino acid reduces coenzyme …
increased Michaelis constant, or K m,(decreased binding affinity) for a coenzyme, resulting
in a lower rate of reaction. About 50 human genetic dis-eases due to defective enzymes can
be remedied or ameliorated by the administration of high doses of the vitamin component of
the corresponding coenzyme, which at least partially restores enzymatic activity. Several
single-nucleotide polymorphisms, in which the variant amino acid reduces coenzyme …