Review
Urology & Nephrology
Nirmal Prasad Bhatt, Aniruddh Vijay Deshpande, Malcolm Ronald Starkey
Summary: Cystinuria is a rare genetic kidney stone disease with no cure. This systematic review evaluated the available literature on non-surgical interventions for cystinuria. The results suggest that first-line therapies such as high diuresis and urinary alkalinization can reduce urinary cystine levels and cystine stone formation. Second-line therapy with cystine-binding drugs further reduces cystine stone formation and recurrence. Combined intervention with alkalinizing agents and cystine-binding drugs synergistically reduces stone recurrence.
JOURNAL OF NEPHROLOGY
(2023)
Article
Chemistry, Multidisciplinary
Takashi Shimomura, Norio Hirakawa, Yuya Ohuchi, Munetaka Ishiyama, Masanobu Shiga, Yuichiro Ueno
Summary: A method to measure xCT activity using selenocysteine and FOdA reaction has been developed in this study, which can evaluate the cystine uptake activity of xCT in different cells and the inhibitory efficiency of xCT inhibitors.
Article
Biochemistry & Molecular Biology
Tjessa Bondue, Anas Kouraich, Sante Princiero Berlingerio, Koenraad Veys, Sandrine Marie, Khaled O. Alsaad, Essam Al-Sabban, Elena Levtchenko, Lambertus van den Heuvel
Summary: Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene mutations, leading to cystine accumulation in multiple organs. The diagnosis of cystinosis is currently based on elevated white blood cell (WBC) cystine levels. We present a case of adolescent proteinuria and corneal cystine crystals with slightly elevated WBC cystine levels, which hindered the diagnosis of nephropathic cystinosis. However, further examination of skin fibroblasts and urine-derived kidney cells revealed higher cystine levels, along with the presence of a homozygous missense mutation in the CTNS gene. This highlights the importance of considering alternative diagnostic methods for patients with low WBC cystine levels.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Food Science & Technology
GuoYan Wang, Lei Chen, SenLin Qin, YiNing Zheng, Chao Xia, JunHu Yao, Ping Wang, Lu Deng
Summary: The study reveals that stimulation of amino acids significantly increases mTORC2 activation, particularly cystine. Knocking down SLC7A11 protein through siRNA demonstrates that SLC7A11-mediated cystine uptake activates mTORC2. Mechanistically, the research shows that cystine stimulation activates p38, which in turn regulates mTORC2 assembly by phosphorylating Sin1 in a cystine-dependent manner. Ultimately, cystine-induced regulation of the p38-Sin1-mTOR-AKT pathway leads to resistance to ferroptosis.
MOLECULAR NUTRITION & FOOD RESEARCH
(2022)
Article
Nutrition & Dietetics
Hiroshi Okamoto, Yusuke Taniyama, Tadashi Sakurai, Gaku Kodama, Chiaki Sato, Toshiaki Fukutomi, Yohei Ozawa, Hirotaka Ishida, Ken Koseki, Takuro Yamauchi, Toru Nakano, Michiaki Unno, Takashi Kamei
Summary: Oral administration of cystine and theanine may contribute to early recovery and rehabilitation after esophagectomy by suppressing inflammatory response, as indicated by lower white blood cell count, neutrophil count, and C-reactive protein level in the CT group compared to the placebo group. Additionally, the CT group showed higher 6MWT and QoR-40 scores on postoperative days 7 and 13, suggesting improved patient activity and quality of life.
Article
Pediatrics
Yu-Jia Guan, Yan-Nan Guo, Wen-Tao Peng, Li-Li Liu
Summary: This study reported a rare case of cystinosis in a Chinese child, with clinical manifestations and novel CTNS gene variant identified through gene analysis. The child exhibited movement disorders and other symptoms before the age of 3, and the gene analysis confirmed a pathogenic variant in the CTNS gene.
FRONTIERS IN PEDIATRICS
(2022)
Article
Chemistry, Physical
Y. Lu, B. P. Bloom, S. Qian, D. H. Waldeck
Summary: This research demonstrates the enantiospecific interaction between a magnetized surface and a chiral amino acid using electrochemical methods, attributing the enantiospecific adsorption of chiral molecules on a ferromagnetic surface to adsorption kinetics rather than thermodynamic stabilization. While measurements show no significant differences in the Gibbs free energy of adsorption for different chiral forms of cysteine and electrode magnetization states, the adsorption and desorption kinetics are strongly dependent on the magnetization state of the electrode surface. Enantioselectivity is also shown to be sensitive to solution pH and the charge state of the chiral adsorbate.
JOURNAL OF PHYSICAL CHEMISTRY LETTERS
(2021)
Article
Agriculture, Dairy & Animal Science
Therese Fitzwilliams, Julie L. L. Wolff-Sneedorff, Merete Fredholm, Peter Karlskov-Mortensen, Bernt Guldbrandtsen, Camilla S. S. Bruun
Summary: Cystinuria is a genetic disease that can lead to cystine urolith formation and the English bulldog is the most commonly affected breed. This study investigated the occurrence of three mutations associated with cystinuria in the Danish population of English bulldogs and found a significant association between the c.568A>G and c.2086A>G mutations and cystinuria in male English bulldogs.
Editorial Material
Cell Biology
Alessandro Luciani, Olivier Devuyst
Summary: This study identified the role of CTNS deficiency in triggering dedifferentiation and dysfunction of PT cells, leading to kidney disease and metabolic complications. It was found that CTNS deficiency stimulates activation of the MTORC1 pathway, diverting cell trajectories towards growth and proliferation, disrupting homeostasis and specialized functions. Treatment with low doses of rapamycin can correct lysosome function and differentiation, ameliorating PT dysfunction in preclinical models of cystinosis.
Review
Agriculture, Dairy & Animal Science
Simona Kovarikova, Petr Marsalek, Katerina Vrbova
Summary: Cystinuria is a metabolic disorder affecting dogs and cats, leading to potential urethral stones. Mutation in genes and the mode of inheritance causing cystinuria have been identified in only some canine breeds.
Article
Medicine, Research & Experimental
Varsha Venkatarangan, Weichao Zhang, Xi Yang, Jess Thoene, Si Houn Hahn, Ming Li
Summary: Cystinosis is a lysosomal storage disease caused by mutations in the cystine exporter, cystinosin. This study identified a rapidly degrading disease variant called cystinosin(7A) and investigated its degradation mechanisms and potential treatment using chemical chaperones.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Pathology
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
Summary: Ocular cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine in lysosomes in various organs. This study identified seven mutations associated with the disease, two of which are novel.
DIAGNOSTIC PATHOLOGY
(2022)
Article
Multidisciplinary Sciences
Marya Bengali, Spencer Goodman, Xiaoying Sun, Magdalene A. Dohil, Ranjan Dohil, Robert Newbury, Tatiana Lobry, Laura Hernandez, Corinne Antignac, Sonia Jain, Stephanie Cherqui
Summary: This study developed a noninvasive imaging method to quantify dermal cystine crystal accumulation in cystinosis patients. Results showed increased nCCV in patients compared to controls. nCCV levels correlated with various clinical outcomes, suggesting it may be used as a potential new biomarker for monitoring cystinosis.
Article
Biochemistry & Molecular Biology
Kazuki Hayashima, Ikuo Kimura, Hironori Katoh
Summary: This study reveals that cystine deprivation induces ferroptosis in glioblastoma cells by decreasing the protein levels of ferritin heavy chain FTH1, and ferritinophagy plays a crucial role in this process. Moreover, GSH depletion alone is not sufficient to induce ferroptosis, as iron inducers in combination with BSO treatment can cause cell death.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Cell Biology
Fangfang Bi, Yuxiong Qiu, Zongfeng Wu, Shaoru Liu, Dinglan Zuo, Zhenkun Huang, Binkui Li, Yunfei Yuan, Yi Niu, Jiliang Qiu
Summary: METTL9 plays a promoting role in hepatocellular carcinoma (HCC), and knocking down METTL9 can inhibit the viability, migration, and invasion of HCC cells, and promote ferroptosis in HCC cells. Targeting METTL9 can inhibit the growth of patient-derived xenograft (PDX) in HCC.
CELL DEATH DISCOVERY
(2023)
Article
Education, Scientific Disciplines
Michael W. Amolins, Cathy M. Ezrailson, David A. Pearce, Amy J. Elliott, Peter F. Vitiello
ADVANCES IN PHYSIOLOGY EDUCATION
(2015)
Article
Biochemistry & Molecular Biology
Michelle L. Booze, Jason M. Hansen, Peter F. Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2016)
Article
Cell Biology
Benjamin J. Forred, Skyla Neuharth, Dae In Kim, Michael W. Amolins, Khatereh Motamedchaboki, Kyle J. Roux, Peter F. Vitiello
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2016)
Article
Pathology
Michael A. O'Reilly, Min Yee, Bradley W. Buczynski, Peter F. Vitiello, Peter C. Keng, Stephen L. Welle, Jacob N. Finkelstein, David A. Dean, B. Paige Lawrence
AMERICAN JOURNAL OF PATHOLOGY
(2012)
Meeting Abstract
Biochemistry & Molecular Biology
Brianna K. Titus, Benjamin J. Forred, Miranda J. Floen, Peter F. Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2011)
Meeting Abstract
Biochemistry & Molecular Biology
Miranda Jo Floen, Elliot Bloom, Peter F. Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2011)
Meeting Abstract
Biochemistry & Molecular Biology
Skyla Neuharth, Benjamin Forred, Daein Kim, Kyle Roux, Peter Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2013)
Meeting Abstract
Biochemistry & Molecular Biology
Miranda Jo Floen, Shanna Baack, Peter F. Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2013)
Article
Biochemistry & Molecular Biology
Miranda J. Floen, Benjamin J. Forred, Elliot J. Bloom, Peter F. Vitiello
FREE RADICAL BIOLOGY AND MEDICINE
(2014)
Article
Multidisciplinary Sciences
Benjamin J. Forred, Darwin R. Daugaard, Brianna K. Titus, Ryan R. Wood, Miranda J. Floen, Michelle L. Booze, Peter F. Vitiello
Article
Cell Biology
Katelyn Dunigan-Russell, Mary Silverberg, Vivian Y. Lin, Rui Li, Stephanie B. Wall, Qian Li, Teodora Nicola, John Gotham, David R. Crowe, Peter F. Vitiello, Anupam Agarwal, Trent E. Tipple
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2020)
Article
Biochemistry & Molecular Biology
Jolyn Fernandes, Katelyn Dunigan-Russell, Hua Zhong, Vivian Lin, Mary Silverberg, Stephanie B. Moore, ViLinh Tran, Dean P. Jones, Peter F. Vitiello, Lynette K. Rogers, Trent E. Tipple
Summary: Utilizing a multi-omics integrated approach, this study found that murine strain disproportionately impacts baseline expression of antioxidant systems in lung tissues, potentially leading to discrepant pulmonary responses in preclinical mouse models.
Article
Biochemistry & Molecular Biology
Alena Golubkova, Tyler Leiva, Katherine Snyder, Camille Schlegel, Sarah M. Bonvicino, Martin-Paul Agbaga, Richard S. Brush, Jason M. Hansen, Peter F. Vitiello, Catherine J. Hunter
Summary: Necrotizing enterocolitis (NEC) is associated with oxidative stress in neonatal intestine. The study found that NEC-induced enteroids showed increased lipid radicals and decreased levels of Gpx4, a key enzyme in the antioxidant defense system. These findings suggest that oxidative stress and impaired antioxidant capacity contribute to the development of NEC.
Review
Biochemistry & Molecular Biology
Manish Bodas, Bharathiraja Subramaniyan, Harry Karmouty-Quintana, Peter F. Vitiello, Matthew S. Walters
Summary: The lung, as the respiratory organ of mammals, plays a crucial role in gas exchange and is regulated by the NOTCH signaling pathway. Notably, dysregulation of NOTCH3 signaling is associated with the development and pathophysiology of various adult lung diseases.
EXPERT REVIEWS IN MOLECULAR MEDICINE
(2022)