{"title":"Primary cilia and Sonic hedgehog signaling in adrenal gland physiology and cancer","authors":"Ivona Mateska","doi":"10.1016/j.coemr.2024.100507","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100507","url":null,"abstract":"<div><p>The adrenal gland is the major steroidogenic organ in mammals, and the Sonic hedgehog (SHH) pathway is particularly important for its development and homeostatic maintenance. In addition, the SHH pathway upregulation has been observed in adrenocortical carcinoma, a rare but deadly cancer. However, many aspects of how the spatial pattern of SHH secretion and signal reception is established and how this pathway signals during cancer remain less clear. Recent studies show that in the adrenal gland, as in other vertebrate tissues, the primary cilium and ciliary-specific proteins are particularly important for SHH pathway activity. Thus, the presence of primary cilia in the adrenal capsule could be limiting the SHH signaling effects to the adrenocortical progenitors in this region.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"34 ","pages":"Article 100507"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S245196502400005X/pdfft?md5=3a3594580781906e7563efb0db33c7e8&pid=1-s2.0-S245196502400005X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140031374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cilia structure and function in human disease","authors":"Gregory J. Pazour","doi":"10.1016/j.coemr.2024.100509","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100509","url":null,"abstract":"<div><p>Ciliary dysfunction causes a large group of developmental and degenerative human diseases known as ciliopathies. These diseases reflect the critical roles that cilia play in sensing the environment and in force generation for motility. Sensory functions include our senses of vision and olfaction. In addition, primary and motile cilia throughout our body monitor the environment allowing cells to coordinate their biology with the cells around them. This coordination is critical to organ development and maintenance, and ciliary dysfunction causes diverse structural birth defects and degenerative diseases. Deficiencies in motility lead to various health issues: lung diseases arise from impaired mucociliary clearance; male infertility results from compromised sperm motility and their inability to traverse the efferent ducts effectively; and disruptions in the left-right axis stem from nodal cilia's failure to establish accurate left-right cues.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"34 ","pages":"Article 100509"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140031375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bend or break: The primary cilium as a potential regulator of electrolyte reabsorption in the kidney","authors":"Wouter H. van Megen, Joost G.J. Hoenderop","doi":"10.1016/j.coemr.2024.100506","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100506","url":null,"abstract":"<div><p>The epithelial cells lining the lumen of the tubular system in the kidney are exposed to a highly dynamic microenvironment, owing to the fluid flow of the pro-urine through this system. Renal flow sensing has been linked to various processes in the kidney, including electrolyte reabsorption. An important mediator of renal flow sensing is the primary cilium, which is found on almost all tubular epithelial cells. In this review, we describe the reported effects of fluid flow on electrolyte transport in the different segments of the nephron and whether these effects are dependent on the primary cilium. Collectively, these studies highlight the stimulatory effect of fluid flow on electrolyte reabsorption, with a variable degree of dependency on the primary cilium.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"34 ","pages":"Article 100506"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2451965024000048/pdfft?md5=b87e8a320dbb4e7a7c3965e8af27a270&pid=1-s2.0-S2451965024000048-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139986814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Strategies to investigate migration and metastases in thyroid cancer","authors":"Daniel M. Chopyk , Priya H. Dedhia","doi":"10.1016/j.coemr.2023.100502","DOIUrl":"10.1016/j.coemr.2023.100502","url":null,"abstract":"<div><p>Thyroid cancer is the most common endocrine malignancy and is also one of the most rapidly increasing cancers worldwide. Although most patients have an excellent prognosis, a significant portion of patients experience disease relapse and metastatic progression. Treatment options for these patients remain inadequate as traditional chemotherapy has limited efficacy, and aggressive disease frequently acquires resistance to radioactive iodine. Because the majority of thyroid cancer mortality is caused by metastatic disease, there is an urgent need to elucidate the mechanisms of thyroid cancer migration and metastasis. While the mechanisms behind thyroid cancer metastasis remains in its infancy, remarkable advancements in genomics, traditional 2-dimensional cell culture, murine models, and 3-dimensional cultures have yielded new insight. This review outlines methodological approaches that can be used to investigate thyroid cancer migration and metastases and in doing so will highlight a number of recent findings that have utilized these approaches.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"34 ","pages":"Article 100502"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francesca Marini , Francesca Giusti , Maria Luisa Brandi
{"title":"Molecular genetics of parathyroid tumors","authors":"Francesca Marini , Francesca Giusti , Maria Luisa Brandi","doi":"10.1016/j.coemr.2024.100510","DOIUrl":"https://doi.org/10.1016/j.coemr.2024.100510","url":null,"abstract":"<div><p>Parathyroid tumors affect less than 0.5% of the general population. They commonly manifest as benign parathyroid adenoma (PA) in about 98% of cases, as atypical parathyroid adenoma (aPA) in 1.2%–1.3% of cases, or as malignant parathyroid carcinoma (PC) in less than 1% of patients. Over 90% of cases present as a sporadic disease, caused by somatic mutations occurred in a single parathyroid chief cell, leading to the development of a single-gland neoplasm. In less than 10% of cases, parathyroid tumors occur as a part of congenital non-syndromic or syndromic endocrine disorders, caused by a germline autosomal dominant mutation inherited by one parent, independently by sex, or, in extremely rare cases, by a <em>de novo</em> mutation occurred during the embryo development.</p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"34 ","pages":"Article 100510"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The evolving genomic landscape of pediatric papillary thyroid cancer","authors":"Julio C. Ricarte-Filho , Aime T. Franco","doi":"10.1016/j.coemr.2023.100483","DOIUrl":"https://doi.org/10.1016/j.coemr.2023.100483","url":null,"abstract":"<div><p><span><span><span>Thyroid cancer is a rare cancer in the </span>pediatric population, but incidences are rising. </span>Thyroid tumors in children have a unique set of clinical, pathological and molecular features, and compared to adults often present with more invasive and </span>metastatic disease<span><span>. The genetic and molecular features of pediatric and adult tumors share many similar characteristics, but the prevalence of gene fusions is much higher in pediatric patients where these fusions confer greater risk for invasive and metastatic disease. Here we summarize the molecular features of pediatric </span>papillary thyroid cancers and how these characteristics may help to guide clinical management of patients with the disease.</span></p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"33 ","pages":"Article 100483"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50183476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Molecular mechanisms underlying sodium iodide symporter expression at the plasma membrane in the thyroid follicular cell","authors":"Gerardo Hernán Carro , Juan Pablo Nicola","doi":"10.1016/j.coemr.2023.100492","DOIUrl":"10.1016/j.coemr.2023.100492","url":null,"abstract":"<div><p><span><span>Sodium iodide symporter (NIS)-mediated </span>radioiodine<span><span> accumulation in thyroid cancer cells is the cornerstone of </span>radioiodine therapy for </span></span>differentiated thyroid cancer<span><span>. A recurring limitation of radioiodine therapy is the development of radioiodine-refractory metastatic thyroid cancer. Thyroid cancer cell dedifferentiation is the major cause of loss of radioiodine accumulation, resulting in a decreased NIS plasma membrane expression involving a plethora of transcriptional, post-transcriptional, and post-translational mechanisms. Immunohistochemical analysis revealed that most differentiated thyroid tumors preserve NIS </span>protein expression, but NIS is often retained intracellularly, suggesting the presence of post-translational mechanisms that repress NIS plasma membrane expression. This review aims to discuss the current knowledge regarding the post-translational mechanisms that regulate NIS trafficking to the plasma membrane under physiological and pathological conditions. A thorough understanding of the molecular mechanisms underlying NIS expression at the plasma membrane would have multiple implications for radioiodine therapy, a pursuit that could uncover novel therapeutic interventions for radioiodine-refractory thyroid tumors.</span></p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"33 ","pages":"Article 100492"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135763902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emily Y. Chu , Jasmine Wu , Thomas L. Clemens , Naomi Dirckx
{"title":"The osteoblast sodium-citrate co-transporter (SLC13A5): A gatekeeper between global citrate homeostasis and tissue mineralization","authors":"Emily Y. Chu , Jasmine Wu , Thomas L. Clemens , Naomi Dirckx","doi":"10.1016/j.coemr.2023.100474","DOIUrl":"10.1016/j.coemr.2023.100474","url":null,"abstract":"<div><p><span>It has been known for decades that bone stores high concentrations of citrate, a pivotal TCA cycle intermediate, but surprisingly little attention has been paid to explaining this curious phenomenon. Recent studies linking mutations in the sodium-citrate co-transporter (</span><em>SLC13A5</em><span><span><span><span>) to a rare neonatal epilepsy have sparked renewed interest in the study of the mechanisms controlling citrate homeostasis and mineral citrate deposition as all affected children display tooth hypomineralization. Studies from our lab using </span>metabolic flux analysis indicate that SLC13A5 is at the center of a specialized metabolic pathway in bone, which finetunes the uptake of extracellular citrate and endogenous production in the mitochondria enabling the </span>osteoblast to deposit citrate during cycles of </span>bone mineralization. Loss of function of this pathway impacts circulating citrate levels and compromises bone mineral structure. These findings implicate SLC13A5 as a gatekeeper for global citrate homeostasis and is required for normal biomechanical physiological functions of bone.</span></p></div>","PeriodicalId":52218,"journal":{"name":"Current Opinion in Endocrine and Metabolic Research","volume":"32 ","pages":"Article 100474"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45188422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}