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Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment
| dc.rights.license | open | en_US |
| dc.contributor.author | JERICO, Daniel | |
| dc.contributor.author | CORDOBA, Karol M. | |
| dc.contributor.author | SAMPEDRO, Ana | |
| dc.contributor.author | JIANG, Lei | |
| hal.structure.identifier | Chimie et Biologie des Membranes et des Nanoobjets [CBMN] | |
| dc.contributor.author | JOUCLA, Gilles | |
| hal.structure.identifier | Chimie et Biologie des Membranes et des Nanoobjets [CBMN] | |
| dc.contributor.author | CABANNE, Charlotte | |
| dc.contributor.author | LANCIEGO, Jose Luis | |
| dc.contributor.author | MARTINI, Paolo G. V. | |
| dc.contributor.author | BERRAONDO, Pedro | |
| dc.contributor.author | AVILA, Matias A. | |
| dc.contributor.author | FONTANELLAS, Antonio | |
| dc.date.accessioned | 2023-04-06T08:06:18Z | |
| dc.date.available | 2023-04-06T08:06:18Z | |
| dc.date.issued | 2022-12-01 | |
| dc.identifier.issn | 2075-1729 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/172837 | |
| dc.description.abstractEn | Rare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinical arena. Acute intermittent porphyria (AIP) is one of these rare diseases. AIP is characterized by haploinsufficiency in the third enzyme of the heme biosynthesis pathway. Identification of the liver as the target organ and a detailed molecular characterization have enabled the development and approval of several therapies to manage this disease, such as glucose infusions, heme replenishment, and, more recently, an siRNA strategy that aims to down-regulate the key limiting enzyme of heme synthesis. Given the involvement of hepatic hemoproteins in essential metabolic functions, important questions regarding energy supply, antioxidant and detoxifying responses, and glucose homeostasis remain to be elucidated. This review reports recent insights into the pathogenesis of acute attacks and provides an update on emerging treatments aimed at increasing the activity of the deficient enzyme in the liver and restoring the physiological regulation of the pathway. While further studies are needed to optimize gene therapy vectors or large-scale production of liver-targeted PBGD proteins, effective protection of PBGD mRNA against the acute attacks has already been successfully confirmed in mice and large animals, and mRNA transfer technology is being tested in several clinical trials for metabolic diseases. | |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
| dc.subject.en | Rare metabolic diseases | |
| dc.subject.en | Hemoproteins | |
| dc.subject.en | Liver function | |
| dc.subject.en | Mitochondrial cytochromes | |
| dc.subject.en | Antioxidant and detoxifying responses | |
| dc.subject.en | Glucose homeostasis | |
| dc.subject.en | Systemic messenger RNA therapy | |
| dc.subject.en | AAV-mediated liver-directed gene therapy | |
| dc.subject.en | Enzyme replacement therapy | |
| dc.title.en | Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.3390/life12111858 | en_US |
| dc.subject.hal | Chimie/Matériaux | en_US |
| bordeaux.journal | Life | en_US |
| bordeaux.volume | 12 | en_US |
| bordeaux.hal.laboratories | CBMN : Chimie & de Biologie des Membranes & des Nano-objets - UMR 5248 | en_US |
| bordeaux.issue | 11 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | Bordeaux INP | en_US |
| bordeaux.institution | CNRS | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-04060248 | |
| hal.version | 1 | |
| hal.date.transferred | 2023-04-06T08:06:32Z | |
| hal.export | true | |
| dc.rights.cc | CC BY | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Life&rft.date=2022-12-01&rft.volume=12&rft.issue=11&rft.eissn=2075-1729&rft.issn=2075-1729&rft.au=JERICO,%20Daniel&CORDOBA,%20Karol%20M.&SAMPEDRO,%20Ana&JIANG,%20Lei&JOUCLA,%20Gilles&rft.genre=article |
