Review
Nutrition & Dietetics
Michal A. Zmijewski
Summary: Vitamin D exhibits a variety of activities, including both classic pathway- and vitamin D receptor-dependent transcriptional modulation, as well as rapid and nongenomic responses. It has cell-protective effects, triggers calcium influx, modulates intracellular processes, and influences mitochondrial function. The mechanisms of these nongenomic responses are still not fully understood, but their impact on physiology, pathology, and potential clinical applications are discussed in this review.
Review
Biochemistry & Molecular Biology
Anna A. Brozyna, Radomir M. Slominski, Boguslaw Nedoszytko, Michal A. Zmijewski, Andrzej T. Slominski
Summary: Psoriasis is a systemic, chronic, immune-mediated disease whose etiology and pathogenesis remain unknown. T-cell activation plays a key role in the development of psoriasis. Modulation of the local neuroendocrine system and vitamin D signaling have shown promising results in adjuvant treatment for psoriasis. Phototherapy, especially UVB-based, can affect serum levels of 25(OH)D, but more clinical trials are needed to establish the correlation between these changes and improvement in psoriasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Environmental Sciences
Johan Lundqvist, Geeta Mandava, Agneta Oskarsson
Summary: Compounds with VDR antagonistic properties were found in environmental samples, which could potentially pose a hazard to human health and aquatic life.
ENVIRONMENTAL SCIENCES EUROPE
(2023)
Article
Endocrinology & Metabolism
Katrina Viloria, Daniela Nasteska, Julia Ast, Annie Hasib, Federica Cuozzo, Silke Heising, Linford J. B. Briant, Martin Hewison, David J. Hodson
Summary: GC-globulin (GC), also known as vitamin D-binding protein, plays a multifunctional role in transporting vitamin 25(OH)D, fatty acids, and scavenging actin. It is highly localized to glucagon-secreting alpha-cells in the pancreatic islets. Loss of GC exacerbates alpha-cell failure during metabolic stress, leading to impaired glucagon secretion and changes in alpha-cell morphology. Restoring GC levels rescues the impairments in glucagon secretion and restores the F-actin cytoskeleton of alpha-cells. Decreased GC levels in alpha-cells of type 2 diabetes donors are associated with changes in alpha-cell mass, morphology, and glucagon expression.
Article
Nutrition & Dietetics
Jinhua Wu, Bule Shao, Xing Xin, Wenliang Luo, Minjia Mo, Wen Jiang, Shuting Si, Shuojia Wang, Yu Shen, Yunxian Yu
Summary: This study explored the associations of vitamin D metabolic pathway gene polymorphisms with gestational 25(OH)D levels in pregnant women, and found that the associations varied by season and VD supplements. Additionally, the Gc isoform had a significant impact on gestational 25(OH)D levels.
CLINICAL NUTRITION
(2021)
Review
Biochemistry & Molecular Biology
Domenico Plantone, Guido Primiano, Carlo Manco, Sara Locci, Serenella Servidei, Nicola De Stefano
Summary: Vitamin D has various effects on the nervous system and its deficiency can increase the risk of developing neurological diseases. Recent studies aim to understand the different outcomes of vitamin D supplementation in progressive neurological diseases. This review provides an overview of vitamin D chemistry, metabolism, mechanisms of action, recommended daily intake, and its role in gene transcription and the immune response. The scientific evidence linking low vitamin D concentrations to severe neurological diseases is discussed, and ongoing clinical trials on vitamin D supplementation in neurological diseases are listed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Paula R. Chen, Raymond R. R. Rowland, Ana M. Stoian, Vlad Petrovan, Maureen Sheahan, Charan Ganta, Giselle Cino-Ozuna, Dae Young Kim, James M. Dunleavey, Kristin M. Whitworth, Melissa S. Samuel, Lee D. Spate, Raissa F. Cecil, Joshua A. Benne, Xingyu Yan, Ying Fang, Brad St Croix, Kelly Lechtenberg, Kevin D. Wells, Randall S. Prather
Summary: ANTXR1 has been identified as the receptor for Senecavirus A (SVA) in pigs. Knockout and mutation of ANTXR1 in pigs resulted in resistance to SVA infection and exhibited features consistent with GAPO syndrome, providing a unique model for studying this rare disease in humans.
SCIENTIFIC REPORTS
(2022)
Article
Dermatology
Anna A. Brozyna, Michal A. Zmijewski, Kinga Linowiecka, Tae-Kang Kim, Radomir M. Slominski, Andrzej T. Slominski
Summary: The pathogenesis of inflammatory skin diseases is associated with abnormal activity of keratinocytes and immune cells infiltrate. Vitamin D-3 deficiency can be correlated with increased incidence, severity and duration of inflammatory skin disorders. Our study found disturbed expression of LRP2/megalin, VDR, ROR alpha and ROR gamma in inflammatory skin lesions compared to normal skin. Changes in the activity of these proteins may play a role in the pathogenesis of inflammatory skin disorders and could serve as potential targets for therapy.
EXPERIMENTAL DERMATOLOGY
(2022)
Review
Nutrition & Dietetics
Sono S. Khan, Martin Petkovich, Rachel M. Holden, Michael A. Adams
Summary: Megalin is an endocytic receptor that plays a crucial role in vitamin D metabolism, facilitating the conversion of precursor 25(OH)D-3 to the active form 1,25(OH)(2)D-3. It is expressed in renal and extrarenal cells, regulating vitamin D homeostasis in various tissues. Despite downregulation of megalin expression in chronic kidney disease models, contradictory results have been observed between humans and rodents.
Article
Biochemical Research Methods
Yann Bouret, Manon Guille-Collignon, Frederic Lemaitre
Summary: Amperometry with ultramicroelectrodes is a routine technique for investigating neurotransmitter secretion by vesicular exocytosis at the single-cell level. The electrochemical detection may lead to acidification of the cell-electrode cleft, but a more general model taking into account buffer species movement and regeneration confirms the robustness of this technique. This model ensures that the pH within the cleft remains at its physiological value during usual exocytotic cell frequencies, regardless of the electrochemical detection of vesicular release.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY
(2021)
Article
Cell Biology
Khuloud Bajbouj, Lina Sahnoon, Jasmin Shafarin, Abeer Al-Ali, Jibran Sualeh Muhammad, Asima Karim, Salman Y. Guraya, Mawieh Hamad
Summary: Vitamin D treatment in breast cancer cells resulted in depletion of cellular iron, altered the expression of key IRGs protein levels, induced oxidative stress, and ultimately led to a significant decrease in breast cancer cell survival.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Felix Javier Jimenez-Jimenez, Gemma Amo, Hortensia Alonso-Navarro, Marisol Calleja, Monica Diez-Fairen, Ignacio Alvarez-Fernandez, Pau Pastor, Jose Francisco Plaza-Nieto, Santiago Navarro-Munoz, Laura Turpin-Fenoll, Jorge Millan-Pascual, Marta Recio-Bermejo, Rafael Garcia-Ruiz, Esteban Garcia-Albea, Jose A. G. Agundez, Elena Garcia-Martin
Summary: This study found that idiopathic restless legs syndrome (RLS) patients had higher serum 25-hydroxyvitamin D levels compared to controls, but these levels were unrelated to the 7 SNPs studied. None of the 7 SNPs analyzed were associated with the risk for idiopathic RLS or with a positive family history of RLS.
JOURNAL OF NEUROLOGY
(2021)
Article
Genetics & Heredity
Watip Tangjittipokin, Pichakorn Umjai, Khwanhatai Khemaprasit, Parichat Charoentawornpanich, Chutima Chanprasert, Nipaporn Teerawattanapong, Tassanee Narkdontri, Jeerunda Santiprabhob
Summary: The study aimed to investigate genetic polymorphisms of vitamin D-related genes in children with T1D and their association with vitamin D and cytokine levels. Significant relationships were found between T1D and CYP2R1 polymorphism, as well as different VDR haplotypes between T1D patients and controls. Vitamin D gene-related variations were associated with vitamin D and circulating cytokine levels in children with T1D.
Article
Biochemistry & Molecular Biology
Peter G. Vaughan-Shaw, James P. Blackmur, Graeme Grimes, Li-Yin Ooi, Anna M. Ochocka-Fox, Karen Dunbar, Alex von Kriegsheim, Vidya Rajasekaran, Maria Timofeeva, Marion Walker, Victoria Svinti, Farhat V. N. Din, Susan M. Farrington, Malcolm G. Dunlop
Summary: In this study, patient derived organoids and CRC cell lines were used to demonstrate that calcitriol can increase the expression of the CRC tumor suppressor gene CDH1. Additionally, several other genes with established links to carcinogenesis showed differential expression after calcitriol treatment. The results suggest that calcitriol can modulate genes and pathways related to CRC tumorigenesis, providing a potential mechanism for the observed association between vitamin D and CRC.
Review
Genetics & Heredity
Giacomo Voltan, Michele Cannito, Michela Ferrarese, Filippo Ceccato, Valentina Camozzi
Summary: Vitamin D plays a crucial role in calcium and phosphate metabolism, bone health, and various extra-skeletal functions. It binds to vitamin D receptors (VDRs) in different tissues, modulating the expression of numerous target genes. Gene polymorphisms in VDRs may influence gene expression, leading to the development of chronic diseases and metabolic complications.
Article
Biochemistry & Molecular Biology
E. E. Palmer, T. Stuhlmann, S. Weinert, E. Haan, H. Van Esch, M. Holvoet, J. Boyle, M. Leffler, M. Raynaud, C. Moraine, H. van Bokhoven, T. Kleefstra, K. Kahrizi, H. Najmabadi, H-H Ropers, M. R. Delgado, D. Sirsi, S. Golla, A. Sommer, M. P. Pietryga, W. K. Chung, J. Wynn, L. Rohena, E. Bernardo, D. Hamlin, B. M. Faux, D. K. Grange, L. Manwaring, J. Tolmie, S. Joss, J. M. Cobben, F. A. M. Duijkers, J. M. Goehringer, T. D. Challman, F. Hennig, U. Fischer, A. Grimme, V. Suckow, L. Musante, J. Nicholl, M. Shaw, S. P. Lodh, Z. Niu, J. A. Rosenfeld, P. Stankiewicz, T. J. Jentsch, J. Gecz, M. Field, V. M. Kalscheuer
MOLECULAR PSYCHIATRY
(2018)
Article
Neurosciences
Francisca Julio-Kalajzic, Sandra Villanueva, Johanna Burgos, Margarita Ojeda, L. Pablo Cid, Thomas J. Jentsch, Francisco V. Sepulveda
JOURNAL OF PHYSIOLOGY-LONDON
(2018)
Article
Biochemistry & Molecular Biology
Jennifer C. Lueck, Dmytro Puchkov, Florian Ullrich, Thomas J. Jentsch
JOURNAL OF BIOLOGICAL CHEMISTRY
(2018)
Article
Biochemistry & Molecular Biology
Pingzheng Zhou, Maya M. Polovitskaya, Thomas J. Jentsch
JOURNAL OF BIOLOGICAL CHEMISTRY
(2018)
Article
Biology
Florian Ullrich, Sandy Blin, Katina Lazarow, Tony Daubitz, Jens Peter von Kries, Thomas J. Jentsch
Article
Multidisciplinary Sciences
Corinna Goeppner, Ian J. Orozco, Maja B. Hoegg-Beiler, Audrey H. Soria, Christian A. Huebner, Fabio L. Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro, Thomas J. Jentsch
NATURE COMMUNICATIONS
(2019)
Article
Immunology
Chun Zhou, Xia Chen, Rosa Planells-Cases, Jiachen Chu, Li Wang, Limin Cao, Zhihong Li, Karen Lopez-Cayuqueo, Yadong Xie, Shiwei Ye, Xiang Wang, Florian Ullrich, Shixin Ma, Yiyuan Fang, Xiaoming Zhang, Zhikang Qian, Xiaozheng Liang, Shi-Qing Cai, Zhengfan Jiang, Dongming Zhou, Qibin Leng, Tsan S. Xiao, Ke Lan, Jinbo Yang, Huabin Li, Chao Peng, Zhaozhu Qiu, Thomas J. Jentsch, Hui Xiao
Article
Biology
Ryoki Nakamura, Tomohiro Numata, Go Kasuya, Takeshi Yokoyama, Tomohiro Nishizawa, Tsukasa Kusakizako, Takafumi Kato, Tatsuya Hagino, Naoshi Dohmae, Masato Inoue, Kengo Watanabe, Hidenori Ichijo, Masahide Kikkawa, Mikako Shirouzu, Thomas J. Jentsch, Ryuichiro Ishitani, Yasunobu Okada, Osamu Nureki
COMMUNICATIONS BIOLOGY
(2020)
Article
Genetics & Heredity
Maya M. Polovitskaya, Carlo Barbini, Diego Martinelli, Frederike L. Harms, F. Sessions Cole, Paolo Calligari, Gianfranco Bocchinfuso, Lorenzo Stella, Andrea Ciolfi, Marcello Niceta, Teresa Rizza, Marwan Shinawi, Kathleen Sisco, Jessika Johannsen, Jonas Denecke, Rosalba Carrozzo, Daniel J. Wegner, Kerstin Kutsche, Marco Tartaglia, Thomas J. Jentsch
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Multidisciplinary Sciences
Chongyuan Wang, Maya M. Polovitskaya, Bryce D. Delgado, Thomas J. Jentsch, Stephen B. Long
Summary: This study reveals the activated conformation and related mechanisms of the proton-activated chloride channel ASOR in acidic conditions. The study found that clusters of extracellular acidic residues gather and induce conformational changes, forming a specific ion conduction pathway. This research is important for understanding the gating mechanism of this ion channel.
Article
Cell Biology
Mariia Zeziulia, Sandy Blin, Franziska W. Schmitt, Martin Lehmann, Thomas J. Jentsch
Summary: Zeziulia et al. identified the proton-activated Cl- channel ASOR/TMEM206 as necessary for the shrinkage of macrophage macropinosomes, which plays a crucial role in sorting and trafficking of cellular organelles. The activation of ASOR requires depolarization mediated by Na+ and acidification by transporters such as H+-ATPases.
NATURE CELL BIOLOGY
(2022)
Article
Urology & Nephrology
Karen Lopez-Cayuqueo, Rosa Planells-Cases, Matthias Pietzke, Anna Oliveras, Stefan Kempa, Sebastian Bachmann, Thomas J. Jentsch
Summary: The study found that all five VRAC subunits are expressed in the kidney with distinct localizations. LRRC8C is mainly found in vascular endothelial cells, LRRC8E is specific to intercalated cells, while LRRC8A, LRRC8B, and LRRC8D are prominent in the basolateral membranes of proximal tubules. Conditional deletion of LRRC8A in proximal tubules results in injury and symptoms.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Cell Biology
Jing Ze Wu, Mariia Zeziulia, Whijin Kwon, Thomas J. Jentsch, Sergio Grinstein, Spencer A. Freeman
JOURNAL OF CELL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Corinna Goppner, Audrey H. Soria, Maja B. Hoegg-Beiler, Thomas J. Jentsch
Summary: The ClC-2 chloride channel is widely expressed in mammalian cells, and mutations affecting its function lead to various diseases. This study using cell type-specific ClC-2 deletion in mice reveals the differential impact of ClC-2 in different cells on retinal and testicular degeneration, as well as leukodystrophy, suggesting that GlialCAM-induced changes in ClC-2 biophysical properties are not relevant for leukodystrophy.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Urology & Nephrology
Karen Lopez-Cayuqueo, Rosa Planells-Cases, Matthias Pietzke, Anna Oliveras, Stefan Kempa, Sebastian Bachmann, Thomas J. Jentsch
Summary: This study found that VRAC/LRRC8 channels play an important role in the kidney, particularly in the function and integrity of proximal tubules. LRRC8 channels may be crucial for the basolateral exit of many organic compounds.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)