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Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma

Fang-Fang Zheng1, Li-Min Zhu1, Ai-Fang Nie1

  • 1From the State Key Laboratory of Medical Genomics, Shanghai Key Laboratory of Hypertension and Department of Hypertension, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China (F.-F.Z., L.-M.Z., J.C., J.-G.W., D.-L.Z., P.-J.G.); Laboratory of Vascular Biology and Key Laboratory of Stem Cell Biology, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China (F.-F.Z., J.-R.L., K.Z., P.-J.G.); Shanghai Institute of Hypertension (F.-F.Z., L.-M.Z., J.C., J.-G.W., D.-L.Z., P.-J.G.), Shanghai Institute of Endocrinology and Metabolism (A.-F.N., X.-Y.L.), and Department of Urology, Ruijin Hospital (W.-L.Z., Z.-J.S.), Shanghai Jiao Tong University School of Medicine, Shanghai, China; and Department of Physiology and Pathophysiology, Shanghai Medical College, Fudan University, Shanghai, China (Y.-C.Z.).

Hypertension (Dallas, Tex. : 1979)
|January 28, 2015
PubMed

Insights

Somatic KCNJ5 gene mutations are common in Chinese patients with aldosterone-producing adenoma, particularly in females. A novel KCNJ5 mutation enhances aldosterone release and may affect potassium channel function.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are implicated in aldosterone-producing adenoma (APA) pathogenesis.
  • The clinical and biochemical profiles of these mutations in Chinese APA patients are not well understood.

Purpose of the Study:

  • To investigate the prevalence and characteristics of somatic mutations in Chinese patients with APA.
  • To identify novel mutations and elucidate their functional impact on aldosterone production.

Main Methods:

  • DNA sequencing was performed on 168 Chinese patients diagnosed with APA.
  • Mutation analysis focused on KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes.
  • Functional assessments included evaluating effects on CYP11B2 mRNA, aldosterone release, membrane potential, and intracellular calcium.

Main Results:

  • Somatic mutations were identified in 129 cases of KCNJ5, 4 in ATP1A1, 1 in ATP2B3, and 1 in CACNA1D.
  • KCNJ5 mutations were more frequent in female patients and correlated with larger adenoma size, increased aldosterone excretion, and lower serum potassium levels.
  • A novel KCNJ5 mutation (p.T148-T149insR) was found to upregulate CYP11B2 mRNA, enhance aldosterone release, cause membrane depolarization, and increase intercellular calcium.

Conclusions:

  • Somatic KCNJ5 mutations are significantly more prevalent than other gene mutations in Chinese patients with APA.
  • The novel KCNJ5 T148-T149insR mutation may contribute to autonomous aldosterone production by altering potassium channel function and cellular signaling.
Keywords:
KCNJ5aldosteronehypertensionpotassium channelsomatic mutation

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