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Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production
X. Wu, EAB. Azizan, E. Goodchild, S. Garg, M. Hagiyama, CP. Cabrera, FL. Fernandes-Rosa, S. Boulkroun, JL. Kuan, Z. Tiang, A. David, M. Murakami, CA. Mein, E. Wozniak, W. Zhao, A. Marker, F. Buss, RS. Saleeb, J. Salsbury, Y. Tezuka, F. Satoh, K....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
14/145/09
Department of Health - United Kingdom
FS/14/75/31134
British Heart Foundation - United Kingdom
BRC-1215-20022
Department of Health - United Kingdom
BRC-1215-20014
Department of Health - United Kingdom
MR/S007776/1
Medical Research Council - United Kingdom
104955/Z/14/Z
Wellcome Trust - United Kingdom
MR/S006869/1
Medical Research Council - United Kingdom
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- adenom kůry nadledvin * MeSH
- adrenokortikální nádory * MeSH
- aldosteron MeSH
- buněčná adhezní molekula 1 MeSH
- cytochrom P450 CYP11B2 MeSH
- hyperaldosteronismus * MeSH
- hypertenze * MeSH
- lidé MeSH
- mezerový spoj MeSH
- mutace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension. Most have gain-of-function somatic mutations of ion channels or transporters. Herein we report the discovery, replication and phenotype of mutations in the neuronal cell adhesion gene CADM1. Independent whole exome sequencing of 40 and 81 APAs found intramembranous p.Val380Asp or p.Gly379Asp variants in two patients whose hypertension and periodic primary aldosteronism were cured by adrenalectomy. Replication identified two more APAs with each variant (total, n = 6). The most upregulated gene (10- to 25-fold) in human adrenocortical H295R cells transduced with the mutations (compared to wildtype) was CYP11B2 (aldosterone synthase), and biological rhythms were the most differentially expressed process. CADM1 knockdown or mutation inhibited gap junction (GJ)-permeable dye transfer. GJ blockade by Gap27 increased CYP11B2 similarly to CADM1 mutation. Human adrenal zona glomerulosa (ZG) expression of GJA1 (the main GJ protein) was patchy, and annular GJs (sequelae of GJ communication) were less prominent in CYP11B2-positive micronodules than adjacent ZG. Somatic mutations of CADM1 cause reversible hypertension and reveal a role for GJ communication in suppressing physiological aldosterone production.
Barts and London Genome Centre School of Medicine and Dentistry Blizard Institute London UK
Centre for Bioinformatics Department of Life Sciences Imperial College London London UK
Clinical Pharmacology Unit University of Cambridge Cambridge UK
Department of Cell Biology University of Pittsburgh School of Medicine Pittsburgh PA USA
Department of Histopathology Addenbrooke's Hospital Cambridge UK
Department of Medicine Faculty of Medicine Universiti Kebangsaan Malaysia Kuala Lumpur Malaysia
Department of Pathology Faculty of Medicine Kindai University Osakasayama Japan
Department of Pathology Faculty of Medicine Universiti Kebangsaan Malaysia Kuala Lumpur Malaysia
Department of Pathology University of Michigan Medical School Ann Arbor MI USA
Department of Surgery Hospital of the University of Pennsylvania Philadelphia PA USA
Division of Metabolism Endocrinology and Diabetes University of Michigan Ann Arbor MI USA
Division of Nephrology Endocrinology and Vascular Medicine Tohoku University Hospital Sendai Japan
Citace poskytuje Crossref.org
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