Question 1

What is the Meaning of V89L Polymorphism?

Accepted Answer

This genetic variation, V89L, denotes an amino acid substitution from Valine to Leucine at position 89 within a protein. It is primarily associated with the CYP17A1 gene, encoding the cytochrome P450c17 enzyme. This enzyme is crucial in steroid hormone biosynthesis, including androgen and estrogen production.

Question 2

What is the Context of V89L Polymorphism?

Accepted Answer

The V89L polymorphism resides within an individual's genetic code, influencing CYP17A1 enzyme function. This enzyme is active in adrenal glands, gonads, and the placenta. It catalyzes critical steps in steroidogenesis, converting progestins into androgens and subsequently into estrogens, essential for hormonal balance.

Question 3

What is the Significance of V89L Polymorphism?

Accepted Answer

Clinically, the V89L polymorphism in CYP17A1 is investigated for its links to various endocrine conditions. Its presence may influence susceptibility to disorders from steroid hormone imbalances, such as PCOS, certain cancers, and reproductive hormone variations. Understanding this variant aids personalized hormonal metabolic insights.

Question 4

What is the Mechanism of V89L Polymorphism?

Accepted Answer

The V89L polymorphism results from a single nucleotide alteration, substituting Valine with Leucine at codon 89 of the CYP17A1 enzyme. This change, in a functional region, may subtly alter catalytic efficiency, stability, or expression levels. Consequently, it can influence the rate and balance of steroid hormone synthesis.

Question 5

What is the Application of V89L Polymorphism?

Accepted Answer

In clinical practice, identifying the V89L polymorphism contributes to individualized hormonal health management. Genetic testing for this variant can be part of a comprehensive diagnostic assessment for individuals with hormonal dysregulation symptoms or a family history of hormone-sensitive conditions. It provides insight into unique steroid metabolism.

Question 6

What is the Metric of V89L Polymorphism?

Accepted Answer

The V89L polymorphism is identified via genetic testing, analyzing an individual's DNA. Common methods include PCR-based assays or direct DNA sequencing. While a genetic marker, its functional implications are often indirectly assessed by measuring circulating steroid hormones like testosterone, estradiol, or DHEA-S, in clinical context.

Question 7

What is the Risk of V89L Polymorphism?

Accepted Answer

The V89L polymorphism is a natural genetic variation, posing no inherent direct risk. However, its association with altered steroid hormone metabolism may indicate predisposition to certain hormone-related health conditions. Misinterpretation of genetic results or isolated reliance without comprehensive evaluation could lead to suboptimal management or undue concern. Clinical decisions must integrate all patient data.

V89L Polymorphism

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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