Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

3.7K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
3.7K
Hormonal Regulation01:33

Hormonal Regulation

30.3K
The renin-aldosterone system is an endocrine system which guides the renal absorption of water and electrolytes, thus managing blood pressure and osmoregulation. Activation of the system begins in the kidneys with a small cluster of cells adjacent to the afferent and efferent blood vessels of the renal corpuscle. As the nephrons are filtering blood, juxtaglomerular cells monitor blood pressure. If they detect a decrease in pressure, they release the hormone renin into the bloodstream.
30.3K
Human Genetics01:28

Human Genetics

2.0K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
2.0K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

81
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Antihypertensive Drugs: Potassium-Sparing Diuretics01:28

Antihypertensive Drugs: Potassium-Sparing Diuretics

2.6K
Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...
2.6K
Genetic Lingo01:11

Genetic Lingo

84.4K
Overview
84.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Comparing ARR Versus Suppressed PRA as Screening Tests for Primary Aldosteronism.

Hypertension (Dallas, Tex. : 1979)·2024
Same author

Who and How Should We Screen for Primary Aldosteronism?

Hypertension (Dallas, Tex. : 1979)·2023
Same author

Recognising primary aldosteronism as a disorder in its own right.

The Medical journal of Australia·2023
Same author

Primary Aldosteronism: Imaging vs. Lateralization.

American journal of hypertension·2022
Same author

Primary Aldosteronism: Where Are We Now? Where to From Here?

Hypertension (Dallas, Tex. : 1979)·2022
Same author

Primary Aldosteronism: Three Strikes and Out.

Hypertension (Dallas, Tex. : 1979)·2021

Related Experiment Video

Updated: Apr 28, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

26.6K

Genetics of primary aldosteronism.

John W Funder1

  • 1Prince Henry's Institute of Medical Research, Clayton, Vic., Australia.

Frontiers of Hormone Research
|June 20, 2014
PubMed
Summary

Primary aldosteronism (PA), a common cause of hypertension, can stem from genetic mutations. Research explores familial hyperaldosteronism (FH) forms and their genetic underpinnings, including somatic mutations in APA.

Area of Science:

  • Endocrinology
  • Genetics
  • Hypertension Research

Background:

  • Primary aldosteronism (PA) accounts for approximately 10% of hypertension cases.
  • PA is typically caused by aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia.
  • Germline mutations causing PA, known as familial hyperaldosteronism (FH), were once considered rare.

Purpose of the Study:

  • To review the genetic basis of primary aldosteronism, including rare familial forms and common somatic mutations.
  • To highlight the genetic mutations identified in aldosterone-producing adenomas (APA).
  • To discuss the prevalence and inheritance patterns of different familial hyperaldosteronism (FH) subtypes.

Main Methods:

  • Literature review of primary aldosteronism genetics.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.2K

Related Experiment Videos

Last Updated: Apr 28, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

26.6K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.2K
  • Analysis of reported somatic mutations in APA.
  • Classification of familial hyperaldosteronism (FH) types based on genetic cause and inheritance.

    • Main Results:

    • Somatic mutations in genes like KCNJ5, ATP1A1, ATP2B3, and CACNA1D are found in about half of APA cases.
    • Familial hyperaldosteronism type 1 (FH-1) is caused by a CYP11B1-CYP11B2 chimeric gene.
    • Familial hyperaldosteronism type 3 (FH-3) involves bilateral KCNJ5 mutations, while FH-2 is the most common hereditary form with unknown dominant mutations.

    Conclusions:

    • Genetic mutations play a significant role in both sporadic and familial forms of primary aldosteronism.
    • Understanding these genetic underpinnings is crucial for diagnosing and managing PA.
    • Further research is needed to identify the mutations responsible for FH-2 and explore potential recessive forms of PA.