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      Susceptibility genes of hyperuricemia and gout

      review-article
      Author(s): ,
      Publication date (Electronic):
      Journal: Hereditas
      Publisher: BioMed Central
      Keywords: Hyperuricemia, Gout, Susceptibility gene, Single nucleotide polymorphism, Serum uric acid

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          Abstract

          Gout is a chronic metabolic disease that seriously affects human health. It is also a major challenge facing the world, which has brought a heavy burden to patients and society. Hyperuricemia (HUA) is the most important risk factor for gout. In recent years, with the improvement of living standards and the change of dietary habits, the incidence of gout in the world has increased dramatically, and gradually tends to be younger. An increasing number of studies have shown that gene mutations may play an important role in the development of HUA and gout. Therefore, we reviewed the existing literature and summarized the susceptibility genes and research status of HUA and gout, in order to provide reference for the early diagnosis, individualized treatment and the development of new targeted drugs of HUA and gout.

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          Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.

          Satori Marchitti, Chad Brocker, Dimitrios Stagos … (2008)
          Aldehydes are highly reactive molecules. While several non-P450 enzyme systems participate in their metabolism, one of the most important is the aldehyde dehydrogenase (ALDH) superfamily, composed of NAD(P)+-dependent enzymes that catalyze aldehyde oxidation. This article presents a review of what is currently known about each member of the human ALDH superfamily including the pathophysiological significance of these enzymes. Relevant literature involving all members of the human ALDH family was extensively reviewed, with the primary focus on recent and novel findings. To date, 19 ALDH genes have been identified in the human genome and mutations in these genes and subsequent inborn errors in aldehyde metabolism are the molecular basis of several diseases, including Sjögren-Larsson syndrome, type II hyperprolinemia, gamma-hydroxybutyric aciduria and pyridoxine-dependent seizures. ALDH enzymes also play important roles in embryogenesis and development, neurotransmission, oxidative stress and cancer. Finally, ALDH enzymes display multiple catalytic and non-catalytic functions including ester hydrolysis, antioxidant properties, xenobiotic bioactivation and UV light absorption.
          Article 0 comments Cited 228 times – based on 0 reviews     Review now
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            Polycystin-2 is an intracellular calcium release channel.

            Sayoko Nishimura, Yiqiang Cai, Yoshiko Maeda … (2002)
            Polycystin-2, the product of the gene mutated in type 2 autosomal dominant polycystic kidney disease (ADPKD), is the prototypical member of a subfamily of the transient receptor potential (TRP) channel superfamily, which is expressed abundantly in the endoplasmic reticulum (ER) membrane. Here, we show by single channel studies that polycystin-2 behaves as a calcium-activated, high conductance ER channel that is permeable to divalent cations. Epithelial cells overexpressing polycystin-2 show markedly augmented intracellular calcium release signals that are lost after carboxy-terminal truncation or by the introduction of a disease-causing missense mutation. These data suggest that polycystin-2 functions as a calcium-activated intracellular calcium release channel in vivo and that polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism.
            Article 0 comments Cited 130 times – based on 0 reviews     Review now
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              Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases.

              A Tiwari, Zhe Chen (2011)
              The ATP-binding cassette (ABC) transporters are a superfamily of membrane proteins that are best known for their ability to transport a wide variety of exogenous and endogenous substances across membranes against a concentration gradient via ATP hydrolysis. There are seven subfamilies of human ABC transporters, one of the largest being the 'C' subfamily (gene symbol ABCC). Nine ABCC subfamily members, the so-called multidrug resistance proteins (MRPs) 1-9, have been implicated in mediating multidrug resistance in tumor cells to varying degrees as the efflux extrude chemotherapeutic compounds (or their metabolites) from malignant cells. Some of the MRPs are also known to either influence drug disposition in normal tissues or modulate the elimination of drugs (or their metabolites) via hepatobiliary or renal excretory pathways. In addition, the cellular efflux of physiologically important organic anions such as leukotriene C(4) and cAMP is mediated by one or more of the MRPs. Finally, mutations in several MRPs are associated with human genetic disorders. In this minireview, the current biochemical and physiological knowledge of MRP1-MRP9 in cancer chemotherapy and human genetic disease is summarized. The mutations in MRP2/ABCC2 leading to conjugated hyperbilirubinemia (Dubin-Johnson syndrome) and in MRP6/ABCC6 leading to the connective tissue disorder Pseudoxanthoma elasticum are also discussed. © 2011 St. John's University. Journal compilation © 2011 FEBS.
              Article 0 comments Cited 81 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Yue-Li Nian: nianyl21@lzu.edu.cn
                Chong-Ge You:
                ORCID: http://orcid.org/0000-0002-3671-596X
                youchg@lzu.edu.cn
                Journal
                Journal ID (nlm-ta): Hereditas
                Journal ID (iso-abbrev): Hereditas
                Title: Hereditas
                Publisher: BioMed Central (London )
                ISSN (Print): 0018-0661
                ISSN (Electronic): 1601-5223
                Publication date (Electronic): 4 August 2022
                Publication date PMC-release: 4 August 2022
                Publication date Collection: 2022
                Volume: 159
                Electronic Location Identifier: 30
                Affiliations
                GRID grid.411294.b, ISNI 0000 0004 1798 9345, Laboratory Medicine Center, , Lanzhou University Second Hospital, ; Lanzhou, 730030 China
                Author information
                http://orcid.org/0000-0002-3671-596X
                Article
                Publisher ID: 243
                DOI: 10.1186/s41065-022-00243-y
                PMC ID: 9351246
                PubMed ID: 35922835
                SO-VID: 3f830a3a-2b1d-4a8b-8453-dedb3ae2b084
                Copyright © © The Author(s) 2022
                License:

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                Date received : 10 April 2022
                Date accepted : 3 July 2022
                Categories
                Subject: Review
                Custom metadata
                issue-copyright-statement © The Author(s) 2022

                Keywords: hyperuricemia,gout,susceptibility gene,single nucleotide polymorphism,serum uric acid
                Data availability:
                Keywords: hyperuricemia, gout, susceptibility gene, single nucleotide polymorphism, serum uric acid

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