Review
Endocrinology & Metabolism
Laszlo Sandor Erdelyi, Laszlo Hunyady, Andras Balla
Summary: The diluting and concentrating function of the kidney is regulated by the V2 receptor and antidiuretic hormone, affecting the body's water homeostasis. Mutations of the V2 receptor can lead to X-linked nephrogenic diabetes insipidus or nephrogenic syndrome of inappropriate antidiuresis disease. This review explores potential therapeutic interventions based on recent findings.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Q. Li, D. Tian, J. Cen, L. Duan, W. Xia
Summary: This study investigated the genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations in the Chinese population, revealing new mutations and the association between genotype and phenotype.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2021)
Article
Health Care Sciences & Services
Senthil Selvaraj, Dircea Rodrigues, Navaneethakrishnan Krishnamoorthy, Khalid A. Fakhro, Luis R. Saraiva, Manuel C. Lemos
Summary: In this study, we report a rare case of a female patient with X-linked recessive NDI caused by a novel heterozygous missense mutation in the AVPR2 gene. Through genetic analysis and functional studies, we found that the mutation destabilizes the helical structure of AVPR2, disrupts its membrane localization, and affects downstream signaling pathways upon activation with vasopressin. These defects result in deficient membrane translocation of aquaporin 2, explaining the inability to concentrate urine in this patient.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Medicine, Research & Experimental
Natasha Tatiana Sobol, Luisina Maria Solerno, Brady Beltran, Liliana Vasquez, Giselle Vanina Ripoll, Juan Garona, Daniel Fernando Alonso
Summary: Osteosarcoma, the most common primary bone malignancy, requires novel treatment strategies for improved patient survival. Repurposed agent dDAVP shows potential anti-tumor activity in osteosarcoma by inhibiting AVPR2-expressing cell growth and raising cAMP levels, suggesting a promising therapeutic tool for managing this aggressive cancer. Further preclinical exploration on orthotopic or metastatic models is warranted to confirm its efficacy.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Endocrinology & Metabolism
Qian Li, Dan Tian, Jing Cen, Lian Duan, Weibo Xia
Summary: In the first and largest case series of NDI caused by AQP2 mutation in Chinese population, 9 AQP2 mutations were identified, including 3 novel mutations. Phenotype was found to correlate with genotypes, revealed by higher level of serum sodium in patients with compound het AQP2 mutations than non-compound het mutations.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Clinical Neurology
Chia-En Wong, Wei-Hsin Wang, Ming-Ying Lan, Po-Hsuan Lee, Chi-Chen Huang, Pei-Fang Su, Jung-Shun Lee
Summary: Postoperative diabetes insipidus (DI) is a common complication following endoscopic sellar surgery. However, it remains unclear whether patients with DI require desmopressin treatment. This study aimed to identify variables that predict the need for desmopressin treatment following sellar surgery.
FRONTIERS IN NEUROLOGY
(2022)
Article
Cell Biology
Marguerite Hureaux, Rosa Vargas-Poussou
Summary: Nephrogenic diabetes insipidus is a condition where the kidneys cannot respond to the antidiuretic hormone, resulting in diluted urine. It is mainly caused by mutations in the AVPR2 and AQP2 genes. About 90% of cases are caused by mutations in the AVPR2 gene, which is inherited in an X-linked recessive manner. The remaining 10% are caused by mutations in the AQP2 gene, which can be inherited in either a recessive or a dominant manner. Symptoms include excessive urination, chronic dehydration, and high blood sodium levels. Diagnosis is based on abnormal urine osmolality response to water restriction or exogenous vasopressin administration. Treatment involves adequate water intake, thiazide diuretics, non-steroidal anti-inflammatory drugs, and a low-salt and protein diet. This review provides an update on the molecular basis of inherited nephrogenic diabetes insipidus.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Yoshitomo Hoshino, Kosuke Inoue, Sara Ikeda, Yukiko Goshima, Keita Tatsushima, Noriaki Fukuhara, Mitsuo Okada, Hiroshi Nishioka, Shozo Yamada, Yasuhiro Takeuchi, Akira Takeshita
Summary: The study aimed to investigate the relationship between the daily dose of orally disintegrating tablets and clinical characteristics, and to identify factors affecting the dosage of the tablets.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Pharmacology & Pharmacy
Laura Szalai, Andras Sziraki, Laszlo Sandor Erdelyi, Kinga Bernadett Kovacs, Miklos Toth, Andras David Toth, Gabor Turu, Dominique Bonnet, Bernard Mouillac, Laszlo Hunyady, Andras Balla
Summary: In this study, a point mutation in the AVPR2 gene of a patient with nephrogenic diabetes insipidus (NDI) was identified, and the impaired function of the mutant receptor was characterized. The mutant receptor was primarily located in the endoplasmic reticulum (ER) and had reduced ability to generate cAMP in response to AVP stimulation. Pretreatment with pharmacochaperones partially restored the receptor's function. Both cell permeant agonists and antagonists can function as pharmacochaperones, providing a potential starting point for developing therapies for patients carrying this mutation.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Ignazio Verzicco, Stefano Tedeschi, Gallia Graiani, Alice Bongrani, Maria Luisa Carnevali, Simona Dancelli, Jessica Zappa, Silvia Mattei, Achiropita Bovino, Stefania Cavazzini, Rossana Rocco, Anna Calvi, Barbara Palladini, Riccardo Volpi, Valentina Cannone, Pietro Coghi, Alberico Borghetti, Aderville Cabassi
Summary: This study found an increased sensitivity to ADH in young female SHR, which promotes the development of hypertension. Early treatment with selective V2 antagonists can delay the future development of hypertension in SHR.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Endocrinology & Metabolism
Lucia Sugawara, Takaaki Nakamura, Yoshitaka Ishizuka, Hiroshi Maegawa
Summary: The case report describes a 40-year-old man diagnosed with familial central diabetes insipidus based on family history, which led to a gene mutation analysis identifying an abnormality in the AVPneurophysin II gene. This mutation causes the AVP to lose its carrier protein function, resulting in the occurrence of central diabetes insipidus.
Article
Endocrinology & Metabolism
Lucia Sugawara, Takaaki Nakamura, Yoshitaka Ishizuka, Hiroshi Maegawa
Summary: This article reports a case of familial central diabetes insipidus. Through gene mutation analysis, it was found that both the patient and his daughter had abnormalities in the AVP-neurophysin II gene, which may be the cause of their development of this disease.
Article
Endocrinology & Metabolism
Junki Kurimoto, Hiroshi Takagi, Takashi Miyata, Yohei Kawaguchi, Yuichi Hodai, Tetsuro Tsumura, Daisuke Hagiwara, Tomoko Kobayashi, Yoshinori Yasuda, Mariko Sugiyama, Takeshi Onoue, Shintaro Iwama, Hidetaka Suga, Ryoichi Banno, Takeshi Katsuki, Fumiaki Ando, Shinichi Uchida, Hiroshi Arima
Summary: The mechanism underlying polyuria induced by high-dose corticosteroid therapy in patients with diabetes insipidus is not well understood. This study investigated the effects of aldosterone and dexamethasone on water balance in patients and mice models, and found that aldosterone treatment induced polyuria by reducing the expression of aquaporin-2 in the kidney.
Article
Biochemistry & Molecular Biology
Hyo-Ju Jang, Hye-Jeong Park, Hong Seok Choi, Hyun Jun Jung, Tae-Hwan Kwon
Summary: This study aimed to establish mpkCCDc14 cells constitutively expressing V2R and AQP2 via CRISPR/Cas9-mediated genome engineering technology. The results showed that these cells had higher abundance of AQP2 protein in the absence of stimulation and exhibited normal response to dDAVP stimulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Physiology
Sua Kim, Chor Ho Jo, Gheun-Ho Kim
Summary: Hyponatremia is a common condition in clinical practice caused by renal water retention. Many medications can induce hyponatremia by affecting the release of arginine vasopressin or potentiating its action in the kidney. A major mechanism of drug-induced hyponatremia is the upregulation of AQP2 from V2R-cAMP-PKA signaling in the absence of AVP stimulation.
FRONTIERS IN PHYSIOLOGY
(2021)
