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Enzyme Variations

Meaning

Enzyme Variations, or enzyme polymorphisms, refer to naturally occurring differences in the amino acid sequence of an enzyme, which are encoded by genetic variations, such as single nucleotide polymorphisms (SNPs). These genetic differences can lead to altered enzyme activity, affecting the rate at which the enzyme metabolizes hormones, drugs, or other substrates in the body. Within endocrinology, variations in key enzymes, like those in the steroidogenesis pathway or drug-metabolizing cytochrome P450 enzymes, are clinically significant as they dictate individual responses to hormone replacement therapy and overall metabolic health.