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Pseudohypoaldosteronism type II

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https://www.readbyqxmd.com/read/27882355/cullin-3-mutation-causes-arterial-stiffness-and-hypertension-through-a-vascular-smooth-muscle-mechanism
#1
Larry N Agbor, Stella-Rita C Ibeawuchi, Chunyan Hu, Jing Wu, Deborah R Davis, Henry L Keen, Frederick W Quelle, Curt D Sigmund
Cullin-3 (CUL3) mutations (CUL3Δ9) were previously identified in hypertensive patients with pseudohypoaldosteronism type-II (PHAII), but the mechanism causing hypertension and whether this is driven by renal tubular or extratubular mechanisms remains unknown. We report that selective expression of CUL3Δ9 in smooth muscle acts by interfering with expression and function of endogenous CUL3, resulting in impaired turnover of the CUL3 substrate RhoA, increased RhoA activity, and augmented RhoA/Rho kinase signaling...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27780982/a-patient-with-pseudohypoaldosteronism-type-ii-complicated-by-congenital-hypopituitarism-carrying-a-klhl3-mutation
#2
Marie Mitani, Munehiro Furuichi, Satoshi Narumi, Tomonobu Hasegawa, Motoko Chiga, Shinichi Uchida, Seiji Sato
Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27727489/phosphorylation-of-klhl3-at-serine-433-impairs-its-interaction-with-the-acidic-motif-of-wnk4-a-molecular-dynamics-study
#3
Lingyun Wang, Ji-Bin Peng
Interaction between the acidic motif (AM) of protein kinase WNK4 and the Kelch domain of KLHL3 are involved in the pathogenesis of pseudohypoaldosteronism type II, a hereditary form of hypertension. This interaction is disrupted by some disease-causing mutations in either WNK4 or KLHL3, or by angiotensin II- and insulin-induced phosphorylation of KLHL3 at serine 433, which is also a site frequently mutated in patients. However, the mechanism by which this phosphorylation disrupts the interaction is unclear...
October 11, 2016: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/27639857/hyperkalemia-in-young-children-blood-pressure-checked
#4
Richard Hollander, Geert Mortier, Koen van Hoeck
: Hyperkalemia in young children is a rare phenomenon and in many cases caused by hemolysis in the specimen due to difficulties in obtaining a sample. However, hyperkalemia can also be a sign of a rare Mendelian syndrome known as familial hyperkalemic hypertension or pseudohypoaldosteronism type II. This disease is characterized by hyperkalemia, hypertension, and mild hyperchloremic metabolic acidosis (with normal anion gap) despite normal glomerular filtration. Full recovery of these abnormalities with thiazide diuretics is essential not to miss the diagnosis of this syndrome...
September 17, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27170636/with-no-lysine-l-wnk1-isoforms-are-negative-regulators-of-the-k-cl-cotransporters
#5
Adriana Mercado, Paola de Los Heros, Zesergio Melo, María Chávez-Canales, Adrián R Murillo-de-Ozores, Erika Moreno, Silvana Bazúa-Valenti, Norma Vázquez, Juliette Hadchouel, Gerardo Gamba
The K(+)-Cl(-) cotransporters (KCC1-KCC4) encompass a branch of the SLC12 family of electroneutral cation-coupled chloride cotransporters that translocate ions out of the cell to regulate various factors, including cell volume and intracellular chloride concentration, among others. L-WNK1 is an ubiquitously expressed kinase that is activated in response to osmotic stress and intracellular chloride depletion, and it is implicated in two distinct hereditary syndromes: the renal disease pseudohypoaldosteronism type II (PHAII) and the neurological disease hereditary sensory neuropathy 2 (HSN2)...
July 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/26863326/regulation-of-renal-electrolyte-transport-by-wnk-and-spak-osr1-kinases
#6
Juliette Hadchouel, David H Ellison, Gerardo Gamba
The discovery of four genes responsible for pseudohypoaldosteronism type II, or familial hyperkalemic hypertension, which features arterial hypertension with hyperkalemia and metabolic acidosis, unmasked a complex multiprotein system that regulates electrolyte transport in the distal nephron. Two of these genes encode the serine-threonine kinases WNK1 and WNK4. The other two genes [kelch-like 3 (KLHL3) and cullin 3 (CUL3)] form a RING-type E3-ubiquitin ligase complex that modulates WNK1 and WNK4 abundance. WNKs regulate the activity of the Na(+):Cl(-) cotransporter (NCC), the epithelial sodium channel (ENaC), the renal outer medullary potassium channel (ROMK), and other transport pathways...
2016: Annual Review of Physiology
https://www.readbyqxmd.com/read/26732173/osmotic-stress-induces-the-phosphorylation-of-wnk4-ser575-via-the-p38mapk-mk-pathway
#7
Junichi Maruyama, Yumie Kobayashi, Tsuyoshi Umeda, Alain Vandewalle, Kohsuke Takeda, Hidenori Ichijo, Isao Naguro
The With No lysine [K] (WNK)-Ste20-related proline/alanine-rich kinase (SPAK)/oxidative stress-responsive kinase 1 (OSR1) pathway has been reported to be a crucial signaling pathway for triggering pseudohypoaldosteronism type II (PHAII), an autosomal dominant hereditary disease that is characterized by hypertension. However, the molecular mechanism(s) by which the WNK-SPAK/OSR1 pathway is regulated remain unclear. In this report, we identified WNK4 as an interacting partner of a recently identified MAP3K, apoptosis signal-regulating kinase 3 (ASK3)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26662201/cell-specific-regulation-of-l-wnk1-by-dietary-k
#8
Tennille N Webb, Rolando Carrisoza-Gaytan, Nicolas Montalbetti, Anna Rued, Ankita Roy, Alexandra M Socovich, Arohan R Subramanya, Lisa M Satlin, Thomas R Kleyman, Marcelo D Carattino
Flow-induced K(+) secretion in the aldosterone-sensitive distal nephron is mediated by high-conductance Ca(2+)-activated K(+) (BK) channels. Familial hyperkalemic hypertension (pseudohypoaldosteronism type II) is an inherited form of hypertension with decreased K(+) secretion and increased Na(+) reabsorption. This disorder is linked to mutations in genes encoding with-no-lysine kinase 1 (WNK1), WNK4, and Kelch-like 3/Cullin 3, two components of an E3 ubiquitin ligase complex that degrades WNKs. We examined whether the full-length (or "long") form of WNK1 (L-WNK1) affected the expression of BK α-subunits in HEK cells...
January 1, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/26490675/generation-and-analysis-of-knock-in-mice-carrying-pseudohypoaldosteronism-type-ii-causing-mutations-in-the-cullin-3-gene
#9
Yuya Araki, Tatemitsu Rai, Eisei Sohara, Takayasu Mori, Yuichi Inoue, Kiyoshi Isobe, Eriko Kikuchi, Akihito Ohta, Sei Sasaki, Shinichi Uchida
Pseudohypoaldosteronism type II (PHAII) is a hereditary hypertensive disease caused by mutations in four different genes: with-no-lysine kinases (WNK) 1 and 4, Kelch-like family member 3 (KLHL3), and cullin 3 (Cul3). Cul3 and KLHL3 form an E3 ligase complex that ubiquitinates and reduces the expression level of WNK4. PHAII-causing mutations in WNK4 and KLHL3 impair WNK4 ubiquitination. However, the molecular pathogenesis of PHAII caused by Cul3 mutations is unclear. In cultured cells and human leukocytes, PHAII-causing Cul3 mutations result in the skipping of exon 9, producing mutant Cul3 protein lacking 57 amino acids...
2015: Biology Open
https://www.readbyqxmd.com/read/26435498/impaired-degradation-of-wnk-by-akt-and-pka-phosphorylation-of-klhl3
#10
Yuki Yoshizaki, Yutaro Mori, Yoshihito Tsuzaki, Takayasu Mori, Naohiro Nomura, Mai Wakabayashi, Daiei Takahashi, Moko Zeniya, Eriko Kikuchi, Yuya Araki, Fumiaki Ando, Kiyoshi Isobe, Hidenori Nishida, Akihito Ohta, Koichiro Susa, Yuichi Inoue, Motoko Chiga, Tatemitsu Rai, Sei Sasaki, Shinichi Uchida, Eisei Sohara
Mutations in with-no-lysine kinase (WNK) 1, WNK4, Kelch-like 3 (KLHL3), and Cullin3 result in an inherited hypertensive disease, pseudohypoaldosteronism type II. WNK activates the Na-Cl cotransporter (NCC), increasing sodium reabsorption in the kidney. Further, KLHL3, an adapter protein of Cullin3-based E3 ubiquitin ligase, has been recently found to bind to WNK, thereby degrading them. Insulin and vasopressin have been identified as powerful activators of WNK signaling. In this study, we investigated effects of Akt and PKA, key downstream substrates of insulin and vasopressin signaling, respectively, on KLHL3...
November 13, 2015: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/26349538/involvement-of-selective-autophagy-mediated-by-p62-sqstm1%C3%A2-in-klhl3-dependent-wnk4-degradation
#11
Yutaro Mori, Takayasu Mori, Mai Wakabayashi, Yuki Yoshizaki, Moko Zeniya, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida
We reported that kelch-like protein 3 (KLHL3)-Cullin3 E3 ligase ubiquitinates with-no-lysine kinase 4 (WNK4) and that impaired WNK4 ubiquitination causes pseudohypoaldosteronism type II, a hereditary hypertensive disease. However, we also found that KLHL3-induced WNK4 degradation could not be inhibited completely by a proteasome inhibitor. Rather, on exposure, for 24 h, of HEK293T cells expressing WNK4 and KLHL3 to a proteasome inhibitor, epoxomicin, the WNK4 protein level was further decreased. As proteasome inhibition is known to activate p62-mediated selective autophagy, we investigated whether WNK4 degradation induced by KLHL3 is also mediated by such an autophagic mechanism...
November 15, 2015: Biochemical Journal
https://www.readbyqxmd.com/read/26152401/kelch-like-3-cullin-3-ubiquitin-ligase-complex-and-wnk-signaling-in-salt-sensitive-hypertension-and-electrolyte-disorder
#12
REVIEW
Eisei Sohara, Shinichi Uchida
Pseudohypoaldosteronism type II (PHAII) is a hereditary disease characterized by salt-sensitive hypertension, hyperkalemia and thiazide sensitivity. Mutations in with-no-lysine kinase 1 (WNK1) and WNK4 genes are reported to cause PHAII. Rigorous studies have demonstrated that WNK kinases constitute a signaling cascade with oxidative stress-responsive gene 1 (OSR1), Ste20-related proline-alanine-rich kinase (SPAK) and the solute carrier family 12a (SLC12a) transporter, including thiazide-sensitive NaCl cotransporter...
September 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/26126332/-causative-genetic-variants-of-pseudohypoaldosteronism-type-ii-and-essential-hypertension
#13
Takayasu Mori, Shinichi Uchida
No abstract text is available yet for this article.
2015: Nihon Jinzo Gakkai Shi
https://www.readbyqxmd.com/read/26121445/selective-hypoaldosteronism-a-review
#14
REVIEW
Cory Wilczynski, Lisa Shah, Mary Ann Emanuele, Nicholas Emanuele, Alaleh Mazhari
OBJECTIVE: Selective hypoaldosteronism (SH) is a condition manifested by hyperkalemia due to low aldosterone secretion with normal cortisol. One of the obstacles in diagnosis is the awareness of the condition itself. The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH. METHODS: Literature search was performed on PubMed and Ovid Medline for articles which contained hypoaldosteronism as a major topic...
August 2015: Endocrine Practice
https://www.readbyqxmd.com/read/26069767/paradoxical-hypertension-and-salt-wasting-in-type-ii-bartter-syndrome
#15
Winnie Kwai-Yu Chan, Ka Fai To, Joanna H M Tong, Chi Wai Law
Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as well as hyponatraemia, hypochloraemia, hyperkalaemia and metabolic acidosis. Her biochemical features mimicked pseudohypoaldosteronism but with initial hypertension, which had not been described in BS. Her subsequent genetic study confirmed two novel heterozygous mutations in the Exon 5 of KCNJ1 compatible with Type II BS...
June 2012: Clinical Kidney Journal
https://www.readbyqxmd.com/read/25904388/a-unifying-mechanism-for-wnk-kinase-regulation-of-sodium-chloride-cotransporter
#16
REVIEW
Chou-Long Huang, Chih-Jen Cheng
Mammalian with-no-lysine [K] (WNK) kinases are a family of four serine-threonine protein kinases, WNK1-4. Mutations of WNK1 and WNK4 in humans cause pseudohypoaldosteronism type II (PHA2), an autosomal-dominant disease characterized by hypertension and hyperkalemia. Increased Na(+) reabsorption through Na(+)-Cl(-) cotransporter (NCC) in the distal convoluted tubule plays an important role in the pathogenesis of hypertension in patients with PHA2. However, how WNK1 and WNK4 regulate NCC and how mutations of WNKs cause activation of NCC have been controversial...
November 2015: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/25831548/klhl3-regulates-paracellular-chloride-transport-in-the-kidney-by-ubiquitination-of-claudin-8
#17
Yongfeng Gong, Jinzhi Wang, Jing Yang, Ernie Gonzales, Ronaldo Perez, Jianghui Hou
A rare Mendelian syndrome--pseudohypoaldosteronism type II (PHA-II)--features hypertension, hyperkalemia, and metabolic acidosis. Genetic linkage studies and exome sequencing have identified four genes--with no lysine kinase 1 (wnk1), wnk4, Kelch-like 3 (KLHL3), and Cullin 3 (Cul3)--mutations of which all caused PHA-II phenotypes. The previous hypothesis was that the KLHL3-Cul3 ubiquitin complex acted on the wnk4-wnk1 kinase complex to regulate Na(+)/Cl(-) cotransporter (NCC) mediated salt reabsorption in the distal tubules of the kidney...
April 7, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/25788573/revisiting-the-nacl-cotransporter-regulation-by-with-no-lysine-kinases
#18
REVIEW
Silvana Bazúa-Valenti, Gerardo Gamba
The renal thiazide-sensitive Na(+)-Cl(-) cotransporter (NCC) is the salt transporter in the distal convoluted tubule. Its activity is fundamental for defining blood pressure levels. Decreased NCC activity is associated with salt-remediable arterial hypotension with hypokalemia (Gitelman disease), while increased activity results in salt-sensitive arterial hypertension with hyperkalemia (pseudohypoaldosteronism type II; PHAII). The discovery of four different genes causing PHAII revealed a complex multiprotein system that regulates the activity of NCC...
May 15, 2015: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/25556166/kelch-like-protein-2-mediates-angiotensin-ii-with-no-lysine-3-signaling-in-the-regulation-of-vascular-tonus
#19
Moko Zeniya, Nobuhisa Morimoto, Daiei Takahashi, Yutaro Mori, Takayasu Mori, Fumiaki Ando, Yuya Araki, Yuki Yoshizaki, Yuichi Inoue, Kiyoshi Isobe, Naohiro Nomura, Katsuyuki Oi, Hidenori Nishida, Sei Sasaki, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida
Recently, the kelch-like protein 3 (KLHL3)-Cullin3 complex was identified as an E3 ubiquitin ligase for with no lysine (WNK) kinases, and the impaired ubiquitination of WNK4 causes pseudohypoaldosteronism type II (PHAII), a hereditary hypertensive disease. However, the involvement of WNK kinase regulation by ubiquitination in situations other than PHAII has not been identified. Previously, we identified the WNK3-STE20/SPS1-related proline/alanine-rich kinase-Na/K/Cl cotransporter isoform 1 phosphorylation cascade in vascular smooth muscle cells and found that it constitutes an important mechanism of vascular constriction by angiotensin II (AngII)...
September 2015: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/24992566/regulation-of-blood-pressure-and-renal-electrolyte-balance-by-cullin-ring-ligases
#20
REVIEW
Shinichi Uchida
PURPOSE OF REVIEW: Efforts to explore the pathogenic mechanisms underlying hereditary hypertension caused by a single gene mutation have brought about conceptual advances in our understanding of blood pressure regulation. We here discuss a novel pathogenic mechanism underlying the hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII), caused by mutations in three different genes encoding for Cullin-3, Kelch-like protein 3 (KLHL3), and with-no-lysine kinases (WNKs). RECENT FINDINGS: In 2001, mutations in genes encoding for WNKs were identified as being responsible for PHAII...
September 2014: Current Opinion in Nephrology and Hypertension
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