4.7 Review

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism

Chang Ho Ahn et al.

Summary: Variable expression of steroidogenic enzymes in adrenal adenoma underlies the clinical heterogeneity of PA and is associated with treatment outcomes. CYP11B1 expression was positively correlated with the severity of hypercortisolemia, and CYP11B2 was positively correlated with that of hyperaldosteronism. Patients with absent clinical improvement after adrenalectomy had lower CYP11B2 expression than those with complete success.

CLINICAL ENDOCRINOLOGY (2022)

Article Oncology

Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism

Jui-Hsiang Lin et al.

Summary: This study found that one-third of patients with unilateral primary aldosteronism (uPA) also had autonomous cortisol secretion (ACS). The presence of multiple aldosterone-producing nodules/micronodules (mAPN/mAPM) in these patients was associated with larger tumor sizes and the interaction between them. Transcriptome analysis and bioinformatics revealed the significance of the HSD3B7/CYP11B1 signaling pathway in uPA adenomas with surrounding mAPN/mAPM. Furthermore, patients with concomitant mAPN/mAPM had lower rates of biochemical success after surgery.

ENDOCRINE-RELATED CANCER (2022)

Article Endocrinology & Metabolism

KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma

Bo-Ching Lee et al.

Summary: KCNJ5 mutation carriers had less calcification burden of the aorta, thickened aortic wall, and less wall thickness progression than non-carriers.

FRONTIERS IN ENDOCRINOLOGY (2022)

Article Endocrinology & Metabolism

Higher prevalence of metabolic disorders in patients with bilateral primary aldosteronism than unilateral primary aldosteronism

Zhihua Zhang et al.

Summary: Patients with bilateral primary aldosteronism (PA) have a higher prevalence of metabolic syndrome compared to those with unilateral PA, showing higher rates of obesity, dyslipidemia, and hyperglycemia. Bilateral PA patients also have higher body mass index, waist circumference, and fasting plasma glucose levels.

CLINICAL ENDOCRINOLOGY (2021)

Review Peripheral Vascular Disease

Left ventricular remodeling and dysfunction in primary aldosteronism

Cheng-Hsuan Tsai et al.

Summary: Primary aldosteronism (PA) is a common cause of secondary hypertension and is associated with worse cardiovascular outcomes. Studies have shown that patients with PA have more severe LV remodeling, which may lead to cardiac dysfunction and other complications.

JOURNAL OF HUMAN HYPERTENSION (2021)

Article Medicine, General & Internal

Taiwan mini-frontier of primary aldosteronism: Updating detection and diagnosis

Chin-Chen Chang et al.

Summary: This article summarizes the internationally accepted standards and clinical recommendations for the detection and diagnosis of primary aldosteronism, providing updated information and protocols recognized as internationally acceptable. The importance of not always withdrawing or adjusting antihypertensive medication on the first patient visit during screening, as well as the unnecessary need for further confirmatory testing in certain scenarios, is emphasized.

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION (2021)

Review Endocrinology & Metabolism

Assessment of mild autonomous cortisol secretion among incidentally discovered adrenal masses

Nicholas Yozamp et al.

Summary: Incidentally discovered adrenal masses may have mild autonomous cortisol secretion, leading to increased health risks. Testing for MACS and surgical adrenalectomy when necessary is recommended, while further studies with adequate randomization and follow-up are needed to determine optimal management strategies.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Article Endocrinology & Metabolism

NP-59 Adrenal Scintigraphy as an Imaging Biomarker to Predict KCNJ5 Mutation in Primary Aldosteronism Patients

Ching-Chu Lu et al.

Summary: Somatic KCNJ5 mutation in primary aldosteronism (PA) patients is associated with higher NP-59 uptake in adrenal scintigraphy. Preoperative NP-59 adrenal scintigraphy may help predict the occurrence of KCNJ5 mutation in PA patients undergoing adrenalectomy.

FRONTIERS IN ENDOCRINOLOGY (2021)

Article Peripheral Vascular Disease

Aldosterone-producing adenoma-harbouring KCNJ5 mutations is associated with lower prevalence of metabolic disorders and abdominal obesity

Kuan-Ming Chen et al.

Summary: This study found that patients with APA harboring KCNJ5 mutations had a significantly lower prevalence of MetS and smaller distribution in waist circumference, SAT, and VAT. Logistic regression analysis showed that VAT area correlated significantly with KCNJ5 mutations among the APAs. After 1-year postadrenalectomy, only participants with KCNJ5 mutations had significant increases in triglycerides, cholesterol, SAT, and VAT.

JOURNAL OF HYPERTENSION (2021)

Article Genetics & Heredity

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

Junhua Zhou et al.

Summary: The study identified gain-of-function somatic mutations in GNA11 or GNAQ in CTNNB1-mutant aldosterone-producing adenomas. These mutations were often found in patients during puberty, pregnancy, or menopause, with elevated LHCGR expression. While most aldosterone-producing adenomas have gain-of-function somatic mutations, the presence of these mutations in aldosterone-producing cell clusters of normal adrenal glands indicates a necessity for codriver mutations in APAs.

NATURE GENETICS (2021)

Article Endocrinology & Metabolism

Evaluation of Abdominal Computed Tomography Scans for Differentiating the Discrepancies in Abdominal Adipose Tissue Between Two Major Subtypes of Primary Aldosteronism

Kuan-Ming Chen et al.

Summary: The study aimed to analyze the differences in abdominal adipose tissue distribution between two subtypes of primary aldosteronism (PA), showing that patients with unilateral aldosterone-producing adenoma (APA) had significantly lower abdominal adiposity indexes and negative correlations of aldosterone-to-renin ratio (ARR) with various adiposity measures.

FRONTIERS IN ENDOCRINOLOGY (2021)

Article Oncology

KCNJ5 Somatic Mutations in Aldosterone-Producing Adenoma Are Associated with a Greater Recovery of Arterial Stiffness

Yi-Yao Chang et al.

Summary: This study investigated the impact of KCNJ5 mutations in APA patients, finding that patients with KCNJ5 mutations showed greater improvement in arterial stiffness after adrenalectomy compared to those without mutations. These results suggest that KCNJ5 mutations may play a role in influencing cardiovascular outcomes in APA patients.

CANCERS (2021)

Article Biochemistry & Molecular Biology

Pathophysiological and Pharmacological Characteristics of KCNJ5 157-159delITE Somatic Mutation in Aldosterone-Producing Adenomas

Kang-Yung Peng et al.

Summary: Mutated KCNJ5 channel plays a crucial role in the pathogenesis of aldosterone-producing adenoma, disrupting potassium ion selectivity and increasing autonomous aldosterone production. Immunohistochemical and patch-clamp experiments confirmed the functional properties of the mutation, while macrolide antibiotics were ineffective in interfering with the aberrant electrophysiological properties induced by the mutation.

BIOMEDICINES (2021)

Article Biochemistry & Molecular Biology

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism

Che-Hsiung Wu et al.

Summary: This study identified somatic mutations in adrenal tissues of patients with unilateral primary aldosteronism (uPA) using a customized and targeted next-generation sequencing (cNGS) approach. The presence of mutations in aldosterone-driver genes was associated with better clinical outcomes after adrenalectomy, suggesting that the identification of such mutations may help predict success rates in uPA patients.

BIOMEDICINES (2021)

Article Biochemistry & Molecular Biology

Heart-Ankle Pulse Wave Velocity Is Superior to Brachial-Ankle Pulse Wave Velocity in Detecting Aldosterone-Induced Arterial Stiffness

Zheng-Wei Chen et al.

Summary: In this study involving 1006 PA patients and 983 EH patients, it was found that haPWV is more sensitive than baPWV in detecting aldosterone-induced arterial stiffness. Results indicated that PA patients had significantly higher baPWV compared to EH patients.

BIOMEDICINES (2021)

Review Endocrinology & Metabolism

Prevalence, diagnosis and outcomes of treatment for primary aldosteronism

Yuhong Yang et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Clinical characterization of patients with primary aldosteronism plus subclinical Cushing's syndrome

Shigemitsu Yasuda et al.

BMC ENDOCRINE DISORDERS (2020)

Review Endocrinology & Metabolism

Atrial Fibrillation in Primary Aldosteronism

Chien-Ting Pan et al.

HORMONE AND METABOLIC RESEARCH (2020)

Article Peripheral Vascular Disease

Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma

Kelly De Sousa et al.

HYPERTENSION (2020)

Article Endocrinology & Metabolism

Association of visceral adiposity and clinical outcome among patients with aldosterone producing adenoma

Leay Kiaw Er et al.

BMJ OPEN DIABETES RESEARCH & CARE (2020)

Article Endocrinology & Metabolism

Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients

Kazutaka Nanba et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Review Medicine, General & Internal

Diagnosis and treatment of primary aldosteronism: practical clinical perspectives

W. F. Young

JOURNAL OF INTERNAL MEDICINE (2019)

Article Endocrinology & Metabolism

Impaired Glucose Metabolism in Primary Aldosteronism Is Associated With Cortisol Cosecretion

Judith Gerards et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Peripheral Vascular Disease

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks

Kazutaka Nanba et al.

HYPERTENSION (2019)

Article Peripheral Vascular Disease

Aldosterone Induces Vascular Damage A Wave Reflection Analysis Study

Chi-Sheng Hung et al.

HYPERTENSION (2019)

Article Endocrinology & Metabolism

KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism

Leticia A. P. Vilela et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Medicine, General & Internal

Cardiovascular risk in primary aldosteronism A systematic review and meta-analysis

Xueyi Wu et al.

MEDICINE (2019)

Review Biochemistry & Molecular Biology

Endothelial Dysfunction in Primary Aldosteronism

Zheng-Wei Chen et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Cardiac & Cardiovascular Systems

Left Ventricular Dysfunction in Patients With Primary Aldosteronism: A Propensity Score-Matching Follow-Up Study With Tissue Doppler Imaging

Yi-Yao Chang et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2019)

Article Medicine, Research & Experimental

In situ metabolomics of aldosterone-producing adenomas

Masanori Murakami et al.

JCI INSIGHT (2019)

Editorial Material Peripheral Vascular Disease

Aging and Adrenal Aldosterone Production

Kazutaka Nanba et al.

HYPERTENSION (2018)

Article Endocrinology & Metabolism

Aldosterone Suppression by Dexamethasone in Patients With KCNJ5-Mutated Aldosterone-Producing Adenoma

Kosuke Inoue et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Clinical Characteristics of Aldosterone- and Cortisol-Coproducing Adrenal Adenoma in Primary Aldosteronism

Lu Tang et al.

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2018)

Article Endocrinology & Metabolism

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans

Kazutaka Nanba et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Obesity as a Key Factor Underlying Idiopathic Hyperaldosteronism

Youichi Ohno et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Review Endocrinology & Metabolism

Primary Aldosteronism and Cerebrovascular Diseases

Zheng-Wei Chen et al.

ENDOCRINOLOGY AND METABOLISM (2018)

Review Physiology

Of channels and pumps: different ways to boost the aldosterone?

S. Bandulik

ACTA PHYSIOLOGICA (2017)

Article Medicine, Research & Experimental

Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma

Ute I. Scholl et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Peripheral Vascular Disease

A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production

F-F Zheng et al.

JOURNAL OF HUMAN HYPERTENSION (2017)

Article Multidisciplinary Sciences

The prevalence of CTNNB1 mutations in primary aldosteronism and consequences for clinical outcomes

Vin-Cent Wu et al.

SCIENTIFIC REPORTS (2017)

Review Cardiac & Cardiovascular Systems

Metabolic syndrome: pathophysiology, management, and modulation by natural compounds

Yogita Rochlani et al.

THERAPEUTIC ADVANCES IN CARDIOVASCULAR DISEASE (2017)

Article Medicine, Research & Experimental

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

Wiebke Arlt et al.

JCI INSIGHT (2017)

Article Endocrinology & Metabolism

Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations

Kazutaka Nanba et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations

Takumi Kitamoto et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Multidisciplinary Sciences

Long term outcome of Aldosteronism after target treatments

Vin-Cent Wu et al.

SCIENTIFIC REPORTS (2016)

Article Multidisciplinary Sciences

Genetics of Aldosterone-Producing Adenoma in Korean Patients

A. Ram Hong et al.

PLOS ONE (2016)

Article Endocrinology & Metabolism

Worsening of lipid metabolism after successful treatment of primary aldosteronism

Christian Adolf et al.

ENDOCRINE (2016)

Article Peripheral Vascular Disease

Clinical Characteristics of Somatic Mutations in Chinese Patients With Aldosterone-Producing Adenoma

Fang-Fang Zheng et al.

HYPERTENSION (2015)

Article Peripheral Vascular Disease

Comparison of Cardiovascular Complications in Patients with and without KCNJ5 Gene Mutations Harboring Aldosterone-producing Adenomas

Takumi Kitamoto et al.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2015)

Article Endocrinology & Metabolism

A Meta-Analysis of Somatic KCNJ5 K+ Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma

Livia Lenzini et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Novel KCNJ5 Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance

Chih-Jen Cheng et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Peripheral Vascular Disease

Long-term effect of specific treatment of primary aldosteronism on carotid intima-media thickness

Robert Holaj et al.

JOURNAL OF HYPERTENSION (2015)

Article Biochemistry & Molecular Biology

Aldosterone biosynthesis in the human adrenal cortex and associated disorders

Yasuhiro Nakamura et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2015)

Article Endocrinology & Metabolism

Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells

Iris Hardege et al.

MOLECULAR ENDOCRINOLOGY (2015)

Article Biochemistry & Molecular Biology

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production

Annabel Berthon et al.

HUMAN MOLECULAR GENETICS (2014)

Article Peripheral Vascular Disease

Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma

Fabio Luiz Fernandes-Rosa et al.

HYPERTENSION (2014)

Article Endocrinology & Metabolism

A Novel KCNJ5-insT149 Somatic Mutation Close to, but Outside, the Selectivity Filter Causes Resistant Hypertension by Loss of Selectivity for Potassium

Maniselvan Kuppusamy et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Cell Biology

Development of monoclonal antibodies against human CYP11B1 and CYP11B2

Celso E. Gomez-Sanchez et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)

Article Biochemistry & Molecular Biology

Effects of aldosterone on insulin sensitivity and secretion

James M. Luther

STEROIDS (2014)

Article Peripheral Vascular Disease

Cardiovascular Complications Associated With Primary Aldosteronism: A Controlled Cross-Sectional Study

Sebastien Savard et al.

HYPERTENSION (2013)

Article Endocrinology & Metabolism

Long-Term Cardio- and Cerebrovascular Events in Patients With Primary Aldosteronism

Paolo Mulatero et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Genetics & Heredity

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Elena A. B. Azizan et al.

NATURE GENETICS (2013)

Article Endocrinology & Metabolism

KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas

Masanobu Yamada et al.

ENDOCRINE JOURNAL (2012)

Article Endocrinology & Metabolism

Expression and Mutations of KCNJ5 mRNA in Japanese Patients with Aldosterone-Producing Adenomas

Ryo Taguchi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Somatic Mutations in the KCNJ5 Gene Raise the Lateralization Index: Implications for the Diagnosis of Primary Aldosteronism by Adrenal Vein Sampling

Teresa M. Seccia et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Peripheral Vascular Disease

Characterization of a novel somatic KCNJ5 mutation delI157 in an aldosterone-producing adenoma

Meena Murthy et al.

JOURNAL OF HYPERTENSION (2012)

Review Cell Biology

Acute and chronic regulation of aldosterone production

Namita G. Hattangady et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Clinicopathological features of primary aldosteronism associated with subclinical Cushing's syndrome

Kiichiro Hiraishi et al.

ENDOCRINE JOURNAL (2011)

Article Endocrinology & Metabolism

Association of plasma aldosterone with the metabolic syndrome in two German populations

Anke Hannemann et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)

Article Endocrinology & Metabolism

Cardiovascular Complications of Patients with Aldosteronism Associated with Autonomous Cortisol Secretion

Yasuyo Nakajima et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Review Endocrinology & Metabolism

Diagnosis and Treatment of Subclinical Hypercortisolism

Iacopo Chiodini

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Endocrinology & Metabolism

Adipokines and Cardiometabolic Profile in Primary Hyperaldosteronism

Gianluca Iacobellis et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Peripheral Vascular Disease

The prevalence of metabolic syndrome and its components in two main types of primary aldosteronism

Z. Somloova et al.

JOURNAL OF HUMAN HYPERTENSION (2010)

Article Endocrinology & Metabolism

Cardiac remodeling in patients with primary aldosteronism

F. Galetta et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2009)

Article Medicine, General & Internal

Cardiovascular outcomes in patients with primary aldosteronism after treatment

Cristiana Catena et al.

ARCHIVES OF INTERNAL MEDICINE (2008)

Article Cardiac & Cardiovascular Systems

Myocardial and aortic stiffening in the early course of primary aldosteronism

Costas Tsioufis et al.

CLINICAL CARDIOLOGY (2008)

Article Peripheral Vascular Disease

Inappropriate left ventricular mass in patients with primary aldosteronism

Maria Lorenza Muiesan et al.

HYPERTENSION (2008)

Article Biochemistry & Molecular Biology

Pivotal role of the mineralocorticoid receptor in corticosteroid-induced adipogenesis

Massimiliano Caprio et al.

FASEB JOURNAL (2007)

Review Endocrinology & Metabolism

Primary aldosteronism: renaissance of a syndrome

William F. Young

CLINICAL ENDOCRINOLOGY (2007)

Article Endocrinology & Metabolism

Insulin sensitivity in patients with primary aldosteronism: A follow-up study

Cristiana Catena et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Peripheral Vascular Disease

Increased arterial wall stiffness in primary aldosteronism in comparison with essential hypertension

Branislav Strauch et al.

AMERICAN JOURNAL OF HYPERTENSION (2006)

Article Peripheral Vascular Disease

Plasma aldosterone is independently associated with the metabolic syndrome

Murielle Bochud et al.

HYPERTENSION (2006)

Article Endocrinology & Metabolism

Prevalence and characteristics of the metabolic syndrome in primary aldosteronism

F Fallo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Peripheral Vascular Disease

Role of aldosterone in left ventricular hypertrophy in hypertension

K Matsumura et al.

AMERICAN JOURNAL OF HYPERTENSION (2006)

Article Cardiac & Cardiovascular Systems

Evidence for an increased rate of cardiovascular events in patients with primary aldosteronism

P Milliez et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)