Question 1

What is the Meaning of CYP11B2 Gene?

Accepted Answer

The CYP11B2 gene, also known as aldosterone synthase, encodes a crucial enzyme essential for the final steps in aldosterone biosynthesis. This cytochrome P450 enzyme is specifically expressed in the adrenal cortex, playing a pivotal role in the body's mineralocorticoid production. Its proper function is vital for maintaining fluid and electrolyte balance.

Question 2

What is the Context of CYP11B2 Gene?

Accepted Answer

Within adrenal glands, the CYP11B2 gene is a key component of the steroidogenesis pathway, localized to the zona glomerulosa. Its activity is tightly regulated by the renin-angiotensin-aldosterone system (RAAS), responding to signals like angiotensin II and potassium. This gene's expression directly influences aldosterone production, a hormone vital for renal function.

Question 3

What is the Significance of CYP11B2 Gene?

Accepted Answer

The CYP11B2 gene's integrity is paramount for cardiovascular health and blood pressure regulation. Dysregulation or genetic variations can lead to primary aldosteronism, a common cause of secondary hypertension, often with hypokalemia. Understanding its role aids clinicians in diagnosing and managing hypertension and related metabolic disturbances, impacting patient well-being.

Question 4

What is the Mechanism of CYP11B2 Gene?

Accepted Answer

The CYP11B2 gene directs aldosterone synthase synthesis, an enzyme catalyzing three oxidative reactions. It converts 11-deoxycorticosterone to corticosterone, then to 18-hydroxycorticosterone, and finally to aldosterone. These enzymatic conversions occur within adrenal cortical cell mitochondria, representing terminal, rate-limiting steps in mineralocorticoid synthesis.

Question 5

What is the Application of CYP11B2 Gene?

Accepted Answer

In clinical practice, the CYP11B2 gene is relevant for evaluating patients with suspected aldosterone disorders. Genetic testing identifies specific mutations, particularly those linked to glucocorticoid-remediable aldosteronism (GRA), a distinct familial hyperaldosteronism. This diagnostic precision informs treatment decisions, guiding clinicians toward appropriate pharmacological interventions or surgical considerations.

Question 6

What is the Metric of CYP11B2 Gene?

Accepted Answer

Assessing CYP11B2 activity often involves measuring circulating aldosterone levels in serum or urine, usually with plasma renin activity or direct renin concentration for the aldosterone-to-renin ratio (ARR). Electrolyte profiles, especially potassium and sodium levels, provide indirect indicators. Targeted genetic sequencing of the CYP11B2 gene is performed to identify specific variants.

Question 7

What is the Risk of CYP11B2 Gene?

Accepted Answer

Abnormalities involving the CYP11B2 gene carry distinct clinical risks. Overactivity or activating mutations can lead to excessive aldosterone production, causing primary aldosteronism, characterized by resistant hypertension, hypokalemia, and elevated cardiovascular event risk. Conversely, rare loss-of-function mutations could impair aldosterone synthesis, potentially causing salt wasting and hypotension, underscoring the delicate balance.

CYP11B2 Gene

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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