Question 1

What is the Meaning of Val158Met Polymorphism?

Accepted Answer

The Val158Met polymorphism is a common genetic variation in the Catechol-O-methyltransferase (COMT) gene. This single nucleotide polymorphism (SNP) involves a valine (Val) to methionine (Met) substitution at codon 158 of the COMT enzyme, altering its thermal stability and enzymatic activity. This genetic change impacts the efficiency with which the enzyme processes its substrates.

Question 2

What is the Context of Val158Met Polymorphism?

Accepted Answer

Catechol-O-methyltransferase (COMT) is an enzyme crucial for metabolizing catecholamines like dopamine, norepinephrine, and epinephrine, and catechol estrogens. It functions in the central nervous system and peripheral tissues. Its activity in the prefrontal cortex influences neuronal signaling and hormonal balance, playing a role in various physiological processes.

Question 3

What is the Significance of Val158Met Polymorphism?

Accepted Answer

This polymorphism holds clinical importance due to its influence on COMT enzyme efficiency. Val allele carriers show higher COMT activity, leading to faster catecholamine degradation. The Met allele associates with lower enzyme activity, resulting in slower breakdown and sustained neurochemical levels, affecting pain, stress, and mood. These variations can impact an individual's response to environmental stimuli.

Question 4

What is the Mechanism of Val158Met Polymorphism?

Accepted Answer

The Val158Met substitution impacts COMT enzyme thermal stability. The Val variant, a "high-activity" allele, is more stable, degrading catechol compounds efficiently. The Met variant, a "low-activity" allele, is less stable, leading to reduced enzyme function and slower catecholamine inactivation, affecting neurotransmitter and hormone dynamics. This structural change dictates the enzyme's metabolic rate.

Question 5

What is the Application of Val158Met Polymorphism?

Accepted Answer

Understanding Val158Met genotype supports personalized clinical management in pain medicine, psychiatry, and hormonal health. Not a standalone diagnostic, knowledge of this polymorphism can inform pharmacotherapy decisions for conditions like depression or chronic pain, guiding medication selection or dosage. It offers insight into estrogen metabolism, allowing for more tailored interventions.

Question 6

What is the Metric of Val158Met Polymorphism?

Accepted Answer

The Val158Met polymorphism is identified via genetic testing, DNA analysis from blood or saliva. Common methods include PCR with RFLP or direct DNA sequencing. The genotype identifies the allele combination; functional impact on COMT activity is inferred from scientific data, not routine direct enzyme measurement. Genetic reports detail the specific variant present.

Question 7

What is the Risk of Val158Met Polymorphism?

Accepted Answer

Misinterpretation of Val158Met genetic test results without comprehensive clinical context presents significant risk. Sole reliance on this polymorphism to guide treatment, without considering a patient's full profile, environmental factors, lifestyle, and symptoms, may lead to suboptimal interventions. This polymorphism is one component of a complex biological system, requiring broader clinical assessment.

Val158Met Polymorphism

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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