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      A Missense Mutation (GGC[ 435Gly]→AGC[Ser]) in Exon 8 of the CYP11B2 Gene Inherited in Japanese Patients with Congenital Hypoaldosteronism

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          Abstract

          Objectives: To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were investigated. Methods: We analyzed the patients’ genomic DNA sequence on all 9 exons of the CYP11B2 gene. In addition, restriction fragment length polymorphism (RFLP) analysis and expression studies were performed. Results: The analysis showed that the patients homozygously retained a missense mutation, GGC[<sup>435</sup>Gly]→AGC[Ser], in the CYP11B2 gene. Expression studies indicated that the steroid 18-hydroxylase/oxidase activities of the mutant enzyme were substantially reduced. Conclusion: These results support the hypothesis that this mutation causes CMO II deficiency in the patients, and are in accordance with our theory that the partial loss of P-450<sub>C18</sub> activities causes CMO II deficiency.

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          Most cited references 9

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          Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

          Two distinct nonoverlapping enhancer elements can be defined within the polyoma enhancer region. In mouse fibroblasts, element A provides a 3-fold higher enhancement of the alpha 2-collagen promoter than element B. In mouse embryonal carcinoma cells, element B shows the same efficiency as in fibroblasts, whereas that of element A decreases by a factor of 3.5. Moreover, a single point mutation (PyEC F9.1) increases the efficiency of element B in both cell types, making it superior to element A in embryonal carcinoma cells. The core of element A is located within a 35 bp region tandem duplicated in several wild-type strains, mostly homologous to a crucial repeated sequence of adenovirus E1a enhancer (Hearing and Shenk, 1983). Element B contains the consensus sequence of Weiher et al. (1982). These two homologies are precisely adjacent to the two DNAase l-hypersensitive sites present in viral chromatin.
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            Congenitally Defective Aldosterone Biosynthesis in Humans: Inactivation of the P450C18 Gene (CYP11B2) Due to Nucleotide Deletion in CMO I-Deficient Patients

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              Isolated Aldosterone Synthase Deficiency Caused by Simultaneous E198D and V386A Mutations in the CYP11B2 Gene

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                Author and article information

                Journal
                HRE
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2003
                2003
                19 November 2003
                : 60
                : 5
                : 255-260
                Affiliations
                Departments of aMedical Chemistry, bGeriatrics, and cInternal Medicine, Kochi Medical School, Kochi, dDepartment of Pediatrics, Iwate Medical University, School of Medicine, Iwate, and eKumamoto University School of Medicine, Kumamoto, Japan
                Article
                74041 Horm Res 2003;60:255–260
                10.1159/000074041
                14614232
                © 2003 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 2, Tables: 1, References: 31, Pages: 6
                Categories
                Case Report

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