Endocrine journal最新文献

Epidermal growth factor receptor contributes to indirect regulation of skeletal muscle mass by androgen. 表皮生长因子受体有助于雄激素对骨骼肌质量的间接调控。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-22 DOI: 10.1507/endocrj.EJ24-0410

Tomoya Onishi, Hiroshi Sakai, Hideaki Uno, Iori Sakakibara, Akiyoshi Uezumi, Mamoru Honda, Tsutomu Kai, Shigeki Higashiyama, Noriyoshi Miura, Tadahiko Kikugawa, Takashi Saika, Yuuki Imai

{"title":"Epidermal growth factor receptor contributes to indirect regulation of skeletal muscle mass by androgen.","authors":"Tomoya Onishi, Hiroshi Sakai, Hideaki Uno, Iori Sakakibara, Akiyoshi Uezumi, Mamoru Honda, Tsutomu Kai, Shigeki Higashiyama, Noriyoshi Miura, Tadahiko Kikugawa, Takashi Saika, Yuuki Imai","doi":"10.1507/endocrj.EJ24-0410","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0410","url":null,"abstract":"Androgen is widely acknowledged to regulate skeletal muscle mass. However, the specific mechanism driving muscle atrophy resulting from androgen deficiency remains elusive. Systemic androgen receptor knockout (ARKO) mice exhibit reduction in both muscle strength and muscle mass while skeletal muscle fiber specific ARKO mice have decreased muscle strength without affecting skeletal muscle mass in the limbs. Therefore, androgens may indirectly regulate skeletal muscle mass through effects on non-myofibers. Considering this, our investigation focused on blood fluid factors that might play a role in the regulation of skeletal muscle mass under the influence of androgens. Using a male mouse model of sham, orchidectomy and DHT replacement, mass spectrometry for serum samples of each group identified epidermal growth factor receptor (EGFR) as a candidate protein involving the regulation of skeletal muscle mass affected by androgens. Egfr expression in both liver and epididymal white adipose tissue correlated with androgen levels. Furthermore, Egfr expression in these tissues was predominantly elevated in male compared to female mice. Interestingly, male mice exhibited significantly elevated serum EGFR concentrations compared to their female counterparts, suggesting a connection with androgen levels. Treatment of EGFR to C2C12 cells promoted phosphorylation of AKT and its downstream S6K, and enhanced the protein synthesis in vitro. Furthermore, the administration of EGFR to female mice revealed a potential role in promoting an increase in skeletal muscle mass. These findings collectively enhance our understanding of the complex interplay among androgens, EGFR, and the regulation of skeletal muscle mass.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature. 以孩子为原型正确诊断出患有利德尔综合征的父母和孩子：病例报告及文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-21 DOI: 10.1507/endocrj.EJ24-0180

Minako Tokunaga, Yuko Seki, Tatsushi Horiguchi, Kiwako Miura, Haruna Kakimoto, Satoshi Morita, Michiyo Mizota, Koshi Kusumoto, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yasuhiro Okamoto

{"title":"A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.","authors":"Minako Tokunaga, Yuko Seki, Tatsushi Horiguchi, Kiwako Miura, Haruna Kakimoto, Satoshi Morita, Michiyo Mizota, Koshi Kusumoto, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yasuhiro Okamoto","doi":"10.1507/endocrj.EJ24-0180","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0180","url":null,"abstract":"Liddle syndrome (LS) is an autosomal dominant genetic disorder characterized by early onset hypertension, hypokalemia, and low plasma aldosterone or renin concentration. It is caused by mutations in subunits of the epithelial sodium channel (ENaC). The clinical phenotypes of LS are variable and nonspecific, making it prone to both misdiagnosis and missed diagnosis. Genetic analysis is necessary to confirm the diagnosis of LS. Herein, we report the case of a 42-year-old male with LS and a 30-year history of hypertension. He was being treated for possible primary aldosteronism (PA) over the preceding 7 years; however, his hypertension was poorly controlled despite intensive combination therapy. His 13-year-old son served as a proband for a diagnosis of LS, as he had hypertension, hypokalemia, and a significant family history of hypertension. Genetic testing revealed a heterozygous pathological variant in the SCNN1B gene. This led to a diagnosis of LS, as the father was found to harbor the same mutation. Both were treated with ENaC inhibitors and a salt-restricted diet, which improved their symptoms markedly. The son's genetic diagnosis facilitated the subsequent proper diagnosis and treatment of his father. LS causes early onset hypertension; hence, its early diagnosis and treatment can prevent complications. Hereditary hypertension should be considered in cases of early onset hypertension with a significant family history. Patients diagnosed with PA using outdated criteria may have concomitant LS and require careful evaluation of biochemical and endocrine tests according to the current criteria.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effects of breaking up prolonged sitting via exercise snacks intervention on the body composition and plasma metabolomics of sedentary obese adults: a randomized controlled trial. 通过运动零食干预打破久坐对久坐肥胖成人身体成分和血浆代谢组学的影响：随机对照试验。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-14 DOI: 10.1507/endocrj.EJ24-0377

Jianming Zhou, Xiaoning Gao, Dandan Zhang, Chuanwu Jiang, Wenbing Yu

引用次数: 0

Associations between muscle quality and whole-body vibration exercise-induced changes in plasma hypoxanthine following an oral glucose load in healthy male subjects. 健康男性在口服葡萄糖负荷后肌肉质量与全身振动运动诱导的血浆次黄嘌呤变化之间的关系。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-13 DOI: 10.1507/endocrj.EJ24-0358

Tomoyuki Hara, Yuya Fujishima, Hitoshi Nishizawa, Yusuke Kawachi, Takashi Nakamura, Seigo Akari, Yoshiyuki Ono, Hirotaka Watanabe, Taka-Aki Sakaue, Yoshinari Obata, Hirofumi Nagao, Shiro Fukuda, Takashi Kanamoto, Mitsuyoshi Takahara, Naoto Katakami, Ken Nakata, Iichiro Shimomura

{"title":"Associations between muscle quality and whole-body vibration exercise-induced changes in plasma hypoxanthine following an oral glucose load in healthy male subjects.","authors":"Tomoyuki Hara, Yuya Fujishima, Hitoshi Nishizawa, Yusuke Kawachi, Takashi Nakamura, Seigo Akari, Yoshiyuki Ono, Hirotaka Watanabe, Taka-Aki Sakaue, Yoshinari Obata, Hirofumi Nagao, Shiro Fukuda, Takashi Kanamoto, Mitsuyoshi Takahara, Naoto Katakami, Ken Nakata, Iichiro Shimomura","doi":"10.1507/endocrj.EJ24-0358","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0358","url":null,"abstract":"Blood levels of hypoxanthine (HX) have been suggested as potential biomarkers associated with intramuscular metabolic dynamics in response to exercise. This pilot randomized crossover trial (UMIN000036520) aimed to investigate the changes in plasma HX after whole-body vibration exercise (WBVE) and their relationships with body composition and muscle-related parameters, enrolling eighteen healthy male volunteers. In the WBVE-alone intervention, the study subjects performed 20-min of WBVE. In the OGTT → WBVE intervention, a 75-g oral glucose load (OGL) was administered 30 min prior to the start of the WBVE intervention. Blood samples were collected before the start and 10 min after the end of WBVE in both interventions. WBVE resulted in a significant increase in plasma HX levels, which was accompanied by increased blood ammonia, pyruvic acid, and lactic acid levels. The HX increase following WBVE was suppressed by prior OGL. In the WBVE-alone intervention, there were no significant correlations between the post-WBVE changes in plasma HX (ΔHX) levels and any of the clinical parameters. On the other hand, in the OGTT → WBVE intervention, ΔHX showed significant negative correlations with muscle mass (ρ = -0.62, p = 0.01), strength (ρ = -0.71, p = 0.005), and muscle quality (ρ = -0.81, p = 0.0007) in the legs. In conclusion, these findings suggest possible associations between post-WBVE increases in plasma HX levels and muscle status, particularly under the glucose-supplemented condition. The measurement of plasma HX concentrations following WBVE may have clinical applications in the identification of high-risk populations for sarcopenia.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dose-response relationship between the fatty liver index and asthma risk: NHANES 2001~2018. 脂肪肝指数与哮喘风险之间的剂量-反应关系：Nhanes 2001~2018.

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-12 DOI: 10.1507/endocrj.EJ24-0248

Tengfei Sun, Kexin Fan, Zhuoxiao Han, Hua Qiao

{"title":"Dose-response relationship between the fatty liver index and asthma risk: NHANES 2001~2018.","authors":"Tengfei Sun, Kexin Fan, Zhuoxiao Han, Hua Qiao","doi":"10.1507/endocrj.EJ24-0248","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0248","url":null,"abstract":"The correlation of obesity and metabolic abnormalities with asthma and non-alcoholic hepatic steatosis has been extensively studied. However, the association between asthma and non-alcoholic hepatic steatosis has been largely overlooked. This study aims to investigate the potential association between asthma risk and the fatty liver index (FLI), a validated indicator of non-alcoholic fatty liver disease (NAFLD). We screened 16,223 adults from National Health and Nutrition Examination Survey (NHANES) data between 2001 and 2018. Logistic regression analysis was performed to identify the association between FLI and asthma risk. We assessed their dose-response relationship using a restricted cubic spline (RCS) model. The threshold effect was analyzed to identify the FLI threshold point. Among the subjects screened, there were 2,192 cases suffered from asthma. After adjusting for all the confounders, using the Q3 group (FLI, 54-83) as the reference, the odds ratios (ORs) were 1.35 for the Q1 group (95% CI, 1.01-1.81), 1.21 for Q2 (95% CI, 0.98-1.49), and 1.48 for Q4 (95% CI, 1.27-1.73). Moreover, the RCS showed a nonlinear relationship between FLI and asthma risk (p < 0.05). Although the nonlinear relationship remained significant after gender-based stratification (p < 0.05), low FLI did not confer an increased risk of asthma in females. The optimal FLI threshold was 65 for the study sample; it was 68 and 63 for males and females, respectively (p < 0.05). This study demonstrated a nonlinear relationship between FLI and asthma risk. Furthermore, maintaining respective index values of 68 and 63 for males and females is likely associated with the lowest asthma risk.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Updates on WHO 5th edition classification, molecular characteristics and tumor microenvironment of adrenocortical carcinomas. 更新世界卫生组织第五版肾上腺皮质癌的分类、分子特征和肿瘤微环境。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-12 DOI: 10.1507/endocrj.EJ24-0466

Yuto Yamazaki, Yuta Tezuka, Yoshikiyo Ono, Fumitoshi Satoh, Hironobu Sasano, Takashi Suzuki

{"title":"Updates on WHO 5th edition classification, molecular characteristics and tumor microenvironment of adrenocortical carcinomas.","authors":"Yuto Yamazaki, Yuta Tezuka, Yoshikiyo Ono, Fumitoshi Satoh, Hironobu Sasano, Takashi Suzuki","doi":"10.1507/endocrj.EJ24-0466","DOIUrl":"https://doi.org/10.1507/endocrj.EJ24-0466","url":null,"abstract":"Discerning malignancy in adrenocortical tumors is clinically pivotal in the management of patients but has also been one of the most difficult areas in both clinical and pathology settings. The recently published WHO 5th edition \"Endocrine and Neuroendocrine Tumours\" recommends a diagnostic algorithm employing not only one but several proposed histopathological criteria-including the Weiss criteria and its revision and the Helsinki criteria-in addition to the Reticulin algorithm, the Ki-67 proliferative index, and others depending upon their histopathological features. On the other hand, the risk classification proposed by ENSAT (European Network of Study for Adrenal Tumors) in 2018 was primarily based on the Ki-67 proliferative index of carcinoma cells, especially focusing on whether or not postoperative or adjuvant chemotherapy could be administered. The recently reported results of the ADIUVO study, although preliminary, discuss the necessity of postoperative therapy with mitotane in patients with low-grade adrenocortical carcinomas (ACCs) after complete resection. In addition, recently reported comprehensive genetic analyses attempted to classify ACCs into four major molecular subtypes: (i) the Wnt/-catenin pathway, (ii) the p53/Rb1 pathway, (iii) the chromosomal maintenance/chromatin remodeling pathway, and (iv) the MMR (Mismatch repair) pathway. Among those, groups (i) and (ii) are more commonly detected in high-grade ACCs but it is also true that specific therapeutic targets based on the molecular characteristics of tumors have remained limited. In addition, possible effects of glucocorticoid excess in functional ACCs on the tumor microenvironment have also been examined, and the utility of immune checkpoint inhibitors is being explored at this juncture.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hyponatremia due to preserved non-osmotic arginine vasopressin secretion in adipsic diabetes insipidus: a case report with review of literature. 腺性尿崩症患者非渗透性精氨酸加压素分泌保留导致的低钠血症：病例报告与文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-08-07 DOI: 10.1507/endocrj.EJ23-0643

Yasufumi Seki, Shun Sugawara, Saya Suzuki, Yulia Minakuchi, Kazuhisa Kusuki, Yuzo Mizuno

{"title":"Hyponatremia due to preserved non-osmotic arginine vasopressin secretion in adipsic diabetes insipidus: a case report with review of literature.","authors":"Yasufumi Seki, Shun Sugawara, Saya Suzuki, Yulia Minakuchi, Kazuhisa Kusuki, Yuzo Mizuno","doi":"10.1507/endocrj.EJ23-0643","DOIUrl":"10.1507/endocrj.EJ23-0643","url":null,"abstract":"Adipsic diabetes insipidus (ADI) is characterized by central diabetes insipidus and an impaired thirst response to hyperosmolality, leading to hypernatremia. Hyponatremia observed in patients with ADI has been considered a complication of desmopressin therapy. Herein, we present a case of impaired thirst sensation and arginine vasopressin (AVP) secretion without desmopressin therapy, in which hyponatremia developed due to preserved non-osmotic AVP secretion. A 53-year-old woman with hypopituitarism, receiving hydrocortisone and levothyroxine, experienced hyponatremia three times over 5 months without desmopressin treatment. The first hyponatremic episode (120 mEq/L) was complicated by a urinary tract infection with a plasma AVP level of 33.8 pg/mL. Subsequent hyponatremia episodes occurred after administration of antipsychotic (124 mEq/L) and spontaneously (125 mEq/L) with unsuppressed plasma AVP levels (1.3 and 1.8 pg/mL, respectively). Hypertonic saline infusion did not affect AVP or copeptin levels. Regulating water intake using a sliding scale based on body weight prevented the recurrence of hyponatremia without the use of desmopressin. Except during infection, plasma AVP levels (1.3 ± 0.4 pg/mL) were not significantly correlated with serum sodium levels (rs = -0.04, p = 0.85). In conclusion, we present a unique case of impaired thirst sensation and AVP secretion in which hyponatremia developed without desmopressin therapy. Preserved non-osmotic AVP secretion, possibly stimulated by glucocorticoid deficiency, may contribute to the development of hyponatremia in patients with ADI.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1087-1092"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature. Pembrolizumab联合外放射治疗有效控制了TMB高的不可切除复发性甲状旁腺癌：病例报告与文献综述。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-07-10 DOI: 10.1507/endocrj.EJ24-0126

Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai

{"title":"Pembrolizumab with external radiation therapy effectively controlled TMB-high unresectable recurrent parathyroid cancer: a case report with review of literature.","authors":"Hiroshi Katoh, Tomoya Mitsuma, Riku Okamoto, Kanako Naito, Takaaki Tokito, Mariko Kikuchi, Takafumi Sangai","doi":"10.1507/endocrj.EJ24-0126","DOIUrl":"10.1507/endocrj.EJ24-0126","url":null,"abstract":"Parathyroid cancer (PC) is extremely resistant to chemotherapy and radiotherapy (RT), but hormonally functional by producing excessive parathyroid hormone (PTH), causing remarkable hypercalcemia even in biochemical disease recurrence. Accordingly, management of hypercalcemia by calcimimetics and bisphosphonates has been main treatment for unresectable PC. Here, we report a case of unresectable tumor mutational burden (TMB)-high recurrent PC that has been effectively controlled by pembrolizumab (PEM) with RT. A 48-year-old male patient, with previous history of left single parathyroidectomy for primary hyperparathyroidism, underwent surgeries for recurrent hyperparathyroidism at 47 and 48 years of age, and was pathologically diagnosed with PC. He was referred to our hospital due to persistent hypercalcemia and elevated PTH. The recurrent tumors were identified in the superior mediastinum and radically resected, then the hyperparathyroidism was improved. A FoundationOne® CDx of the specimen called TMB-high. He demonstrated recurrent hyperparathyroidism at 49 years of age, and underwent a gross curative resection. However, hyperparathyroidism achieved only insufficient improvement, indicating biochemical residual cancer cells. PEM treatment was initiated in combination with RT to the left central-lateral neck and superior mediastinum. He successfully achieved evocalcet and zoledronate withdrawal, and the PTH level improvement was continuously observed for 8 months at present, with only grade 2 subclinical hypothyroidism. Interestingly, leukocyte fraction ratios were reversed corresponding to disease improvement. A combination of PEM and RT is a promising treatment of unresectable TMB-high PC. Recent evidence on the immunomodulatory effect of RT provides the rationale for the combination of RT and PEM.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1069-1075"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Paeoniflorin alleviates high glucose-induced endothelial cell apoptosis in diabetes mellitus by inhibiting HRAS-activated RAS pathway. 芍药苷通过抑制 HRAS 激活的 RAS 通路，缓解高血糖诱导的糖尿病内皮细胞凋亡。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-07-30 DOI: 10.1507/endocrj.EJ24-0122

Wenting Yu, Hongchun Jiang

{"title":"Paeoniflorin alleviates high glucose-induced endothelial cell apoptosis in diabetes mellitus by inhibiting HRAS-activated RAS pathway.","authors":"Wenting Yu, Hongchun Jiang","doi":"10.1507/endocrj.EJ24-0122","DOIUrl":"10.1507/endocrj.EJ24-0122","url":null,"abstract":"Paeoniflorin (Pae) can improve diabetes mellitus (DM), especially endothelial dysfunction induced by high glucose (HG). Molecularly, the mechanism pertinent to Pae and DM lacks further in-depth research. Hence, this study determined the molecular mechanism of Pae in treating DM through network pharmacology. The target of Pae was analyzed by TCMSP database, and DM-related genes were dissected by Genecards database and Omim database. PPI network was constructed for cross targets through Cytoscape 3.9.1 and STRING platform. GO and KEGG analyses were carried out on the cross targets. Protein molecular docking verification was completed by AutoDockTools and Pymol programs. Human umbilical vein endothelial cells (HUVECs) were separately treated with HG, Pae (5, 10, 20 μM) and/or HRAS overexpression plasmids (oe-HRAS). The cell viability, apoptosis and the protein expressions of HRAS and Ras-GTP were evaluated. There were 50 cross targets between Pae and DM, and VEGFA, EGFR, HRAS, SRC and HSP90AA1 were the key genes identified by PPI network analysis. GO and KEGG analyses revealed signal paths such as Rap1 and Ras. Molecular docking results confirmed that Pae had a good binding ability with key genes. In HG-treated HUVECs, Pae dose-dependently facilitated cell viability, attenuated cell apoptosis, and dwindled the expressions of HRAS and Ras-GTP, but these effects of Pae were reversed by oe-HRAS. In conclusion, Pae regulates the viability and apoptosis of HG-treated HUVECs by inhibiting the expression of HRAS.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1045-1053"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family. 一个日本家庭中导致 HDR 综合征的 GATA3（p.Ala17ProfsTer178）新型框架移位变体。

IF 1.3 4区医学

Endocrine journal Pub Date : 2024-11-01 Epub Date: 2024-08-27 DOI: 10.1507/endocrj.EJ24-0147

Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki

{"title":"A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.","authors":"Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki","doi":"10.1507/endocrj.EJ24-0147","DOIUrl":"10.1507/endocrj.EJ24-0147","url":null,"abstract":"HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. We present the case of a 38-year-old Japanese man with HDR syndrome who exhibited hypoparathyroidism, sensorineural deafness, renal dysfunction, severe symptomatic hypocalcemia with Chvostek's and Trousseau's signs, and QT prolongation on electrocardiography. He had a family history of deafness and hypocalcemia. Genetic testing revealed a novel GATA3 gene variant at exon 2 (c.48delC), which induces a frameshift resulting in termination at codon 178, causing HDR syndrome. We summarized 45 Japanese cases of HDR syndrome with regard to the mode of onset (familial or sporadic) and the age at diagnosis. In addition, we summarized all previous cases of HDR syndrome with GATA3 gene variants. Mapping of previously reported genetic variants in HDR syndrome revealed that most missense variants were observed at exons 4 and 5 regions in the GATA3 gene. These two regions contain zinc finger domains, demonstrating their functional importance in GATA3 transcription. This review of literature provides a useful reference for diagnosing HDR syndrome and predicting the related future manifestations.","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":" ","pages":"1077-1086"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0