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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Standard

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. / Azizan, Elena A B; Poulsen, Hanne; Tuluc, Petronel; Zhou, Junhua; Clausen, Michael; Lieb, Andreas; Maniero, Carmela; Garg, Sumedha; Bochukova, Elena G; Zhao, Wanfeng; Shaikh, Lalarukh Haris; Brighton, Cheryl A; Teo, Ada E D; Davenport, Anthony P; Dekkers, Tanja; Tops, Bas; Küsters, Benno; Ceral, Jiri; Yeo, Giles S H; Neogi, Sudeshna Guha; McFarlane, Ian; Rosenfeld, Nitzan; Marass, Francesco; Hadfield, James; Margas, Wojciech; Chaggar, Kanchan; Solar, Miroslav; Deinum, Jaap; Dolphin, Annette C; Farooqi, I Sadaf; Striessnig, Joerg; Nissen, Poul; Brown, Morris J.

I: Nature Genetics, Bind 45, Nr. 9, 28.08.2013, s. 1055-1060.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Azizan, EAB, Poulsen, H, Tuluc, P, Zhou, J, Clausen, M, Lieb, A, Maniero, C, Garg, S, Bochukova, EG, Zhao, W, Shaikh, LH, Brighton, CA, Teo, AED, Davenport, AP, Dekkers, T, Tops, B, Küsters, B, Ceral, J, Yeo, GSH, Neogi, SG, McFarlane, I, Rosenfeld, N, Marass, F, Hadfield, J, Margas, W, Chaggar, K, Solar, M, Deinum, J, Dolphin, AC, Farooqi, IS, Striessnig, J, Nissen, P & Brown, MJ 2013, 'Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension', Nature Genetics, bind 45, nr. 9, s. 1055-1060. https://doi.org/10.1038/ng.2716

APA

Azizan, E. A. B., Poulsen, H., Tuluc, P., Zhou, J., Clausen, M., Lieb, A., Maniero, C., Garg, S., Bochukova, E. G., Zhao, W., Shaikh, L. H., Brighton, C. A., Teo, A. E. D., Davenport, A. P., Dekkers, T., Tops, B., Küsters, B., Ceral, J., Yeo, G. S. H., ... Brown, M. J. (2013). Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nature Genetics, 45(9), 1055-1060. https://doi.org/10.1038/ng.2716

CBE

Azizan EAB, Poulsen H, Tuluc P, Zhou J, Clausen M, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AED, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GSH, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. 2013. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nature Genetics. 45(9):1055-1060. https://doi.org/10.1038/ng.2716

MLA

Vancouver

Author

Azizan, Elena A B ; Poulsen, Hanne ; Tuluc, Petronel ; Zhou, Junhua ; Clausen, Michael ; Lieb, Andreas ; Maniero, Carmela ; Garg, Sumedha ; Bochukova, Elena G ; Zhao, Wanfeng ; Shaikh, Lalarukh Haris ; Brighton, Cheryl A ; Teo, Ada E D ; Davenport, Anthony P ; Dekkers, Tanja ; Tops, Bas ; Küsters, Benno ; Ceral, Jiri ; Yeo, Giles S H ; Neogi, Sudeshna Guha ; McFarlane, Ian ; Rosenfeld, Nitzan ; Marass, Francesco ; Hadfield, James ; Margas, Wojciech ; Chaggar, Kanchan ; Solar, Miroslav ; Deinum, Jaap ; Dolphin, Annette C ; Farooqi, I Sadaf ; Striessnig, Joerg ; Nissen, Poul ; Brown, Morris J. / Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. I: Nature Genetics. 2013 ; Bind 45, Nr. 9. s. 1055-1060.

Bibtex

@article{e3c37ba789a744acbcf85b996344af90,
title = "Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension",
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 ",
author = "Azizan, {Elena A B} and Hanne Poulsen and Petronel Tuluc and Junhua Zhou and Michael Clausen and Andreas Lieb and Carmela Maniero and Sumedha Garg and Bochukova, {Elena G} and Wanfeng Zhao and Shaikh, {Lalarukh Haris} and Brighton, {Cheryl A} and Teo, {Ada E D} and Davenport, {Anthony P} and Tanja Dekkers and Bas Tops and Benno K{\"u}sters and Jiri Ceral and Yeo, {Giles S H} and Neogi, {Sudeshna Guha} and Ian McFarlane and Nitzan Rosenfeld and Francesco Marass and James Hadfield and Wojciech Margas and Kanchan Chaggar and Miroslav Solar and Jaap Deinum and Dolphin, {Annette C} and Farooqi, {I Sadaf} and Joerg Striessnig and Poul Nissen and Brown, {Morris J}",
year = "2013",
month = aug,
day = "28",
doi = "10.1038/ng.2716",
language = "English",
volume = "45",
pages = "1055--1060",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "9",

}

RIS

TY - JOUR

T1 - Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

AU - Azizan, Elena A B

AU - Poulsen, Hanne

AU - Tuluc, Petronel

AU - Zhou, Junhua

AU - Clausen, Michael

AU - Lieb, Andreas

AU - Maniero, Carmela

AU - Garg, Sumedha

AU - Bochukova, Elena G

AU - Zhao, Wanfeng

AU - Shaikh, Lalarukh Haris

AU - Brighton, Cheryl A

AU - Teo, Ada E D

AU - Davenport, Anthony P

AU - Dekkers, Tanja

AU - Tops, Bas

AU - Küsters, Benno

AU - Ceral, Jiri

AU - Yeo, Giles S H

AU - Neogi, Sudeshna Guha

AU - McFarlane, Ian

AU - Rosenfeld, Nitzan

AU - Marass, Francesco

AU - Hadfield, James

AU - Margas, Wojciech

AU - Chaggar, Kanchan

AU - Solar, Miroslav

AU - Deinum, Jaap

AU - Dolphin, Annette C

AU - Farooqi, I Sadaf

AU - Striessnig, Joerg

AU - Nissen, Poul

AU - Brown, Morris J

PY - 2013/8/28

Y1 - 2013/8/28

N2 - 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

AB - 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

U2 - 10.1038/ng.2716

DO - 10.1038/ng.2716

M3 - Journal article

C2 - 23913004

VL - 45

SP - 1055

EP - 1060

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -