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

Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4.

Abstract

At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas (APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in ATP1A1 and ATP2A3 were reported to occur in APAs. We find that KCNJ5 mutations are common in APAs resembling cortisol-secreting cells of the adrenal zona fasciculata but are absent in a subset of APAs resembling the aldosterone-secreting cells of the adrenal zona glomerulosa. We performed exome sequencing of ten zona glomerulosa-like APAs and identified nine with somatic mutations in either ATP1A1, encoding the Na(+)/K(+) ATPase α1 subunit, or CACNA1D, encoding Cav1.3. The ATP1A1 mutations all caused inward leak currents under physiological conditions, and the CACNA1D mutations induced a shift of voltage-dependent gating to more negative voltages, suppressed inactivation or increased currents. Many APAs with these mutations were <1 cm in diameter and had been overlooked on conventional adrenal imaging. Recognition of the distinct genotype and phenotype for this subset of APAs could facilitate diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Diseases / complications
  • Adrenal Cortex Diseases / diagnosis
  • Adrenal Cortex Diseases / genetics*
  • Amino Acid Substitution
  • Calcium Channels, L-Type / chemistry
  • Calcium Channels, L-Type / genetics*
  • Calcium Channels, L-Type / metabolism
  • Cluster Analysis
  • Female
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels / genetics
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels / metabolism
  • Gene Expression Profiling
  • Humans
  • Hypertension / diagnosis
  • Hypertension / etiology
  • Hypertension / genetics*
  • Male
  • Mutation*
  • Protein Conformation
  • Sodium-Potassium-Exchanging ATPase / chemistry
  • Sodium-Potassium-Exchanging ATPase / genetics*
  • Sodium-Potassium-Exchanging ATPase / metabolism

Substances

  • CACNA1D protein, human
  • Calcium Channels, L-Type
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels
  • KCNJ5 protein, human
  • ATP1A1 protein, human
  • Sodium-Potassium-Exchanging ATPase

Associated data

  • GEO/GSE48303