Daniela Braconi, Lia Millucci, Ottavia Spiga, Annalisa Santucci
{"title":"Cell and tissue models of alkaptonuria","authors":"Daniela Braconi, Lia Millucci, Ottavia Spiga, Annalisa Santucci","doi":"10.1016/j.ddmod.2019.12.001","DOIUrl":null,"url":null,"abstract":"<div><p><span>Alkaptonuria<span><span> (AKU) is a rare metabolic disease<span> of historical and medical interest. Despite the identification of gene and protein defects leading to the accumulation of </span></span>homogentisic acid (HGA), little is known on how HGA is transformed into an ochronotic pigment (the hallmark of the disease) leading to a range of clinical manifestations. Major obstacles in tackling the pathological features of AKU are the rarity of biological samples, the invasiveness of sampling techniques and the intrinsic difficulties of studying the pigmented tissues. This review provides an overview of the </span></span><em>in vitro</em> and <em>ex vivo</em> cell and tissue models that were recently developed and characterized to fill the above-mentioned gaps in the knowledge of AKU.</p></div>","PeriodicalId":39774,"journal":{"name":"Drug Discovery Today: Disease Models","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ddmod.2019.12.001","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Drug Discovery Today: Disease Models","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1740675720300013","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Pharmacology, Toxicology and Pharmaceutics","Score":null,"Total":0}
引用次数: 3
Abstract
Alkaptonuria (AKU) is a rare metabolic disease of historical and medical interest. Despite the identification of gene and protein defects leading to the accumulation of homogentisic acid (HGA), little is known on how HGA is transformed into an ochronotic pigment (the hallmark of the disease) leading to a range of clinical manifestations. Major obstacles in tackling the pathological features of AKU are the rarity of biological samples, the invasiveness of sampling techniques and the intrinsic difficulties of studying the pigmented tissues. This review provides an overview of the in vitro and ex vivo cell and tissue models that were recently developed and characterized to fill the above-mentioned gaps in the knowledge of AKU.
期刊介绍：
Drug Discovery Today: Disease Models discusses the non-human experimental models through which inference is drawn regarding the molecular aetiology and pathogenesis of human disease. It provides critical analysis and evaluation of which models can genuinely inform the research community about the direct process of human disease, those which may have value in basic toxicology, and those which are simply designed for effective expression and raw characterisation.
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