Ask about this productRelated genes to: KCNJ5 Blocking Peptide
- Gene:
- KCNJ5 NIH gene
- Name:
- potassium voltage-gated channel subfamily J member 5
- Previous symbol:
- -
- Synonyms:
- Kir3.4, CIR, KATP1, GIRK4, LQT13
- Chromosome:
- 11q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-04-13
- Date modifiied:
- 2019-04-23
Related products to: KCNJ5 Blocking Peptide
Related articles to: KCNJ5 Blocking Peptide
- Circulating tumor DNA (ctDNA) can be detected in adrenocortical carcinoma; however, its detectability in benign adrenal tumors, such as aldosterone-producing adenoma (APA), remains unclear. We investigated whether tumor-specific mutations could be detected in plasma cell-free DNA (cfDNA) obtained from peripheral and adrenal venous blood in a 34-year-old man with APA. The patient was evaluated for secondary hypertension, and screening and confirmatory tests established the diagnosis of primary aldosteronism. Computed tomography revealed an 11-mm left adrenal mass, and adrenal venous sampling demonstrated left-sided aldosterone hypersecretion. The patient subsequently underwent left adrenalectomy, and pathological examination confirmed an APA. Targeted next-generation sequencing of 18 adrenal disease-related genes identified a somatic mutation in the tumor tissue. However, the corresponding mutation was not detectable in cfDNA from either peripheral or adrenal venous plasma, despite sampling under clinically favorable conditions. Postoperatively, blood pressure and serum potassium levels normalized. This case illustrates the challenges of detecting tumor-derived mutations in plasma from small benign adrenal tumors using standard sequencing approaches and highlights how tumor burden, sampling conditions, and assay sensitivity influence ctDNA detectability. Further studies employing highly sensitive, mutation-targeted methods are warranted to elucidate the biological and technical factors affecting ctDNA detection in APA. - Source: PubMed
Publication date: 2026/08/28
Aono DaisukeKato ToshiakiKometani MitsuhiroYoneda TakashiHosomichi KazuyoshiKarashima Shigehiro - Primary aldosteronism (PA), the most common curable form of hypertension, is frequently caused by aldosterone-producing adenomas (APAs) harbouring KCNJ5 mutations that render aldosterone synthesis sensitive to macrolides in vitro. This study aimed to evaluate whether a single dose of roxithromycin reduces plasma aldosterone concentration (PAC) and blood pressure (BP) in patients with KCNJ5-mutated APA, and to characterize the haemodynamic effects of macrolides in mice. - Source: PubMed
Rossi Gian PaoloCaroccia BrasilinaBressan AlessandroByiringiro ClementGarcía-Redondo Ana BelénCeolotto GiulioZanotti GiuseppePadrini RobertoBriones Ana MariaSeccia Teresa Maria - Primary aldosteronism (PA) is a common, under-recognised cause of hypertension carrying cardiovascular and renal risk beyond blood pressure alone. Management requires accurate subtype diagnosis: lateralised disease may be cured by adrenalectomy, whereas bilateral disease usually requires mineralocorticoid receptor antagonist therapy. The PASO criteria standardised postsurgical outcome assessment and showed that biochemical remission is achieved in most patients with adrenal vein sampling-confirmed lateralised disease, whereas clinical remission is variable, reflecting pre-existing hypertensive burden, age and sex. The PAMO criteria extend this framework to medically treated PA and show that complete clinical response is uncommon. At the tissue level, the HISTALDO classification distinguishes classical lateralised disease, typically caused by an aldosterone-producing adenoma, from non-classical disease, dominated by multiple micronodules; the latter carries a higher risk of postsurgical persistent or recurrent aldosteronism. These observations support a broader model in which PA forms a continuous rather than binary spectrum, from subclinical renin-independent aldosteronism and age-related micronodular remodelling to overt bilateral and lateralised disease. Tissue omics studies support a model in which aldosterone-producing lesions progress from zona glomerulosa cells to micronodules and adenomas. KCNJ5-mutated adenomas may follow a direct route, arising without a detectable micronodule stage, possibly because reduced oxidative stress favours early cell survival and expansion. The adenoma is therefore not a static endpoint but a maturing tissue, in which immune remodelling and changes in cell survival mechanisms may shape progression towards a hypersecretory state. Together, these findings link clinical phenotype to adrenal tissue biology and support a dynamic, genotype-modulated model of PA pathogenesis. - Source: PubMed
Wei JiaWilliams Tracy Ann - Primary aldosteronism is frequently caused by mutations in the (potassium inwardly rectifying channel subfamily J member 5) gene, encoding a G-protein inwardly rectifying potassium channel. These mutations disrupt the channel's selectivity filter, permitting abnormal sodium influx. We aimed to identify compounds that selectively activate mutant KCNJ5 channels. By further increasing sodium conductance, such compounds could induce lethal sodium influx in mutant adrenal cells, providing a targeted therapeutic strategy for primary aldosteronism caused by mutations. - Source: PubMed
Publication date: 2026/08/17
Mir-Bashiri SanasRakete StefanWei JiaPeitzsch MirkoHahner StefanieReincke MartinWilliams Tracy Ann - Primary aldosteronism (PA) and pheochromocytoma (PHEO) are both causes of secondary hypertension. Since these two diseases have different pathogeneses, the coexistence of PA and PHEO is very rare and poses challenges in diagnosis and treatment. - Source: PubMed
Publication date: 2026/07/22
Sun BoYu HanxiaoHe MinzhiWang ZheZhang YanLiu ZiyuWen JiamingSong Xiaoxiao