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Primary Aldosteronism and ARMC5 Variants.

Mihail Zilbermint1, Paraskevi Xekouki1, Fabio R Faucz1

  • 1Section on Endocrinology and Genetics (M.Z., P.X., F.R.F., A.B., A.G., M.H.S.-R., M.B., S.B.A., S.E., M.B.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Biostatistics and Clinical Epidemiology Service (N.S.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Laboratory of Pathology (M.M.Q., M.M.), Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Pediatrics (A.H.), University Hospitals Case Medical Center, Rainbow Babies and Children's Hospital, Cleveland, Ohio 44106; Cardiovascular Disease Section (R.L., G.A., L.D., B.R.), Genomics of Metabolic, Cardiovascular, and Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology, Metabolism, and Diabetes (A.D., S.Y.G., R.N., J.B.), Inserm Unit 1016, Centre National de la Recherche Scientifique UMR 8104, Institut Cochin, 75014 Paris, France; and Endocrine Oncology Branch (E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

The Journal of Clinical Endocrinology and Metabolism
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PubMed
Summary
This summary is machine-generated.

Germline mutations in the ARMC5 gene were identified in patients with primary aldosteronism. These ARMC5 variants, particularly in African Americans, may contribute to hypertension risk.

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Area of Science:

  • Endocrinology
  • Genetics
  • Hypertension Research

Background:

  • Primary aldosteronism is a significant cause of secondary hypertension.
  • Recent genetic discoveries have shed light on primary aldosteronism.
  • ARMC5, a tumor-suppressor gene, was implicated in cortisol-producing adrenal hyperplasia.

Purpose of the Study:

  • To investigate ARMC5 gene defects in a cohort of 56 patients with primary aldosteronism.
  • To determine the prevalence and impact of ARMC5 mutations in this patient group.

Main Methods:

  • Patients underwent comprehensive diagnostic evaluations for primary aldosteronism.
  • Genetic analysis focused on identifying ARMC5 alterations.
  • In silico analysis predicted the pathogenicity of identified ARMC5 sequence changes.

Main Results:

  • Twelve germline ARMC5 genetic alterations were found in 39.3% of the cohort.
  • Six patients (10.7%) had ARMC5 variants predicted to be damaging.
  • All patients with damaging ARMC5 variants were African American.

Conclusions:

  • Germline ARMC5 variants are associated with primary aldosteronism.
  • Screening for ARMC5 variants is recommended in primary aldosteronism patients, especially African Americans.
  • ARMC5 variants may explain the predisposition to hypertension in African Americans.