دورية أكاديمية
أعرض في EDS

Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain.

التفاصيل البيبلوغرافية
العنوان: Type 2 deiodinase polymorphism causes ER stress and hypothyroidism in the brain.
المؤلفون: Jo S; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Fonseca TL; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., Bocco BMLC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., Fernandes GW; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., McAninch EA; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Bolin AP; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA.; Department of Pharmacology, Biomedical Science Institute, University of São Paulo, and., Da Conceição RR; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA.; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil., Werneck-de-Castro JP; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Ignacio DL; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Egri P; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Németh D; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Fekete C; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Bernardi MM; Graduate Program of Environmental and Experimental Pathology, Graduate Program of Dentistry, Universidade Paulista, São Paulo, SP, Brazil., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Mannan NS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Gereben B; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Ribeiro MO; Developmental Disorders Program, Center of Biological Science and Health, Mackenzie Presbyterian University, São Paulo, SP, Brazil., Bianco AC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
المصدر: The Journal of clinical investigation [J Clin Invest] 2019 Jan 02; Vol. 129 (1), pp. 230-245. Date of Electronic Publication: 2018 Dec 03.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
أسماء مطبوعة: Publication: 1999- : Ann Arbor, MI : American Society for Clinical Investigation
Original Publication: New Haven [etc.] American Society for Clinical Investigation.
مواضيع طبية MeSH: Brain*/enzymology , Brain*/pathology , Endoplasmic Reticulum Stress* , Hypothyroidism*/drug therapy , Hypothyroidism*/enzymology , Hypothyroidism*/genetics , Hypothyroidism*/pathology , Iodide Peroxidase*/genetics , Iodide Peroxidase*/metabolism , Polymorphism, Genetic* , Unfolded Protein Response*, Amino Acid Substitution ; Animals ; Endoplasmic Reticulum/enzymology ; Endoplasmic Reticulum/genetics ; Golgi Apparatus/enzymology ; Golgi Apparatus/genetics ; HEK293 Cells ; Humans ; Mice ; Mice, Transgenic ; Mutation, Missense ; Thyroxine/therapeutic use ; Triiodothyronine/therapeutic use ; Iodothyronine Deiodinase Type II
مستخلص: Levothyroxine (LT4) is a form of thyroid hormone used to treat hypothyroidism. In the brain, T4 is converted to the active form T3 by type 2 deiodinase (D2). Thus, it is intriguing that carriers of the Thr92Ala polymorphism in the D2 gene (DIO2) exhibit clinical improvement when liothyronine (LT3) is added to LT4 therapy. Here, we report that D2 is a cargo protein in ER Golgi intermediary compartment (ERGIC) vesicles, recycling between ER and Golgi. The Thr92-to-Ala substitution (Ala92-D2) caused ER stress and activated the unfolded protein response (UPR). Ala92-D2 accumulated in the trans-Golgi and generated less T3, which was restored by eliminating ER stress with the chemical chaperone 4-phenyl butyric acid (4-PBA). An Ala92-Dio2 polymorphism-carrying mouse exhibited UPR and hypothyroidism in distinct brain areas. The mouse refrained from physical activity, slept more, and required additional time to memorize objects. Enhancing T3 signaling in the brain with LT3 improved cognition, whereas restoring proteostasis with 4-PBA eliminated the Ala92-Dio2 phenotype. In contrast, primary hypothyroidism intensified the Ala92-Dio2 phenotype, with only partial response to LT4 therapy. Disruption of cellular proteostasis and reduced Ala92-D2 activity may explain the failure of LT4 therapy in carriers of Thr92Ala-DIO2.
التعليقات: Comment in: J Clin Invest. 2019 Jan 2;129(1):55-57. (PMID: 30507611)
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معلومات مُعتمدة: R56 DK058538 United States DK NIDDK NIH HHS; R01 DK058538 United States DK NIDDK NIH HHS; 110141/Z/15/Z United Kingdom WT_ Wellcome Trust; R01 DK065055 United States DK NIDDK NIH HHS; United Kingdom WT_ Wellcome Trust
فهرسة مساهمة: Keywords: Behavior; Cell stress; Endocrinology; Metabolism; Thyroid disease
المشرفين على المادة: 06LU7C9H1V (Triiodothyronine)
EC 1.11.1.8 (Iodide Peroxidase)
Q51BO43MG4 (Thyroxine)
تواريخ الأحداث: Date Created: 20181024 Date Completed: 20191105 Latest Revision: 20240411
رمز التحديث: 20240411
مُعرف محوري في PubMed: PMC6307951
DOI: 10.1172/JCI123176
PMID: 30352046
قاعدة البيانات: MEDLINE
الوصف
تدمد:1558-8238
DOI:10.1172/JCI123176