Question 1

What is the Meaning of CYP11B2?

Accepted Answer

CYP11B2 refers to the gene encoding aldosterone synthase, an essential enzyme within the cytochrome P450 family. This enzyme is primarily located in the zona glomerulosa of the adrenal cortex and is responsible for catalyzing the final three steps in the biosynthesis of aldosterone, a critical mineralocorticoid hormone.

Question 2

What is the Context of CYP11B2?

Accepted Answer

This enzyme operates within the intricate framework of adrenal steroidogenesis, serving as the terminal and rate-limiting enzyme in the production of aldosterone. Its activity is tightly regulated by the renin-angiotensin-aldosterone system (RAAS), responding to signals such as angiotensin II, potassium levels, and adrenocorticotropic hormone, thereby playing a central role in maintaining fluid and electrolyte balance.

Question 3

What is the Significance of CYP11B2?

Accepted Answer

The functional integrity of CYP11B2 is paramount for systemic blood pressure regulation and electrolyte homeostasis. Dysregulation of this enzyme, whether through genetic mutations or altered activity, directly impacts aldosterone levels, leading to clinical conditions such as primary aldosteronism characterized by hypertension and hypokalemia, or conversely, hypoaldosteronism which can cause salt wasting and hypotension.

Question 4

What is the Mechanism of CYP11B2?

Accepted Answer

Aldosterone synthase, encoded by CYP11B2, performs a series of distinct enzymatic reactions within the mitochondria of adrenal cortical cells. It converts deoxycorticosterone into 18-hydroxycorticosterone, then further oxidizes this intermediate to 18-oxocorticosterone, and finally completes the process by forming aldosterone through an 18-oxidation step, thereby facilitating the crucial final transformations in the steroidogenic pathway.

Question 5

What is the Application of CYP11B2?

Accepted Answer

Understanding CYP11B2 is clinically relevant in diagnosing and subtyping primary aldosteronism, particularly in identifying genetic forms like Glucocorticoid-Remediable Aldosteronism (GRA) caused by a chimeric gene involving CYP11B1 and CYP11B2. Genetic testing for specific mutations can guide targeted therapeutic strategies, allowing for more precise management of hypertension and associated electrolyte imbalances in affected individuals.

Question 6

What is the Metric of CYP11B2?

Accepted Answer

The functional output of CYP11B2 is typically assessed indirectly by measuring plasma aldosterone concentration (PAC) and plasma renin activity (PRA), from which the aldosterone-to-renin ratio (ARR) is derived as a primary screening tool for aldosterone excess. Direct genetic sequencing of the CYP11B2 gene can also identify specific variants linked to altered enzyme activity or inherited forms of aldosterone dysregulation.

Question 7

What is the Risk of CYP11B2?

Accepted Answer

Aberrant CYP11B2 activity carries significant clinical risks; overactivity leads to excessive aldosterone production, contributing to resistant hypertension, hypokalemia, and increased cardiovascular morbidity including stroke, myocardial infarction, and renal damage. Conversely, impaired function can result in aldosterone deficiency, posing risks of hyperkalemia, metabolic acidosis, and volume depletion if not appropriately recognized and managed.

CYP11B2

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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