Liver gene transfer for metabolite detoxification in inherited metabolic diseases

被引：7

作者：

D'Alessio, Alfonso M. ^{[1
,2
]}

Boffa, Iolanda ^{[1
,3
]}

De Stefano, Lucia ^{[1
]}

Soria, Leandro R. ^{[1
]}

Brunetti-Pierri, Nicola ^{[1
,2
,4
,5
]}

机构：

[1] Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy

[2] Univ Naples Federico II, Sch Adv Studies, Scuola Super Meridionale SSM, Genom & Expt Med Program, Naples, Italy

[3] Azienda Osped Univ Federico II, Naples, Italy

[4] Federico II Univ Naples, Dept Translat Med, Naples, Italy

[5] Telethon Inst Genet & Med, Pozzuoli, Italy

来源：

FEBS LETTERS | 2024年 / 598卷 / 19期

关键词：

AAV; gene therapy; inherited metabolic disorders; liver; lipid nanoparticles; metabolite detoxification; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; ADENOASSOCIATED VIRUS VECTOR; MESSENGER-RNA THERAPY; INBORN-ERRORS; PHENYLKETONURIA; TRANSPLANTATION; IMMUNITY; MOUSE; RECOMMENDATIONS; TRANSDUCTION;

D O I：

10.1002/1873-3468.14957

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Inherited metabolic disorders (IMDs) are a growing group of genetic diseases caused by defects in enzymes that mediate cellular metabolism, often resulting in the accumulation of toxic substrates. The liver is a highly metabolically active organ that hosts several thousands of chemical reactions. As such, it is an organ frequently affected in IMDs. In this article, we review current approaches for liver-directed gene-based therapy aimed at metabolite detoxification in a variety of IMDs. Moreover, we discuss current unresolved challenges in gene-based therapies for IMDs. The liver is a highly metabolically active organ. In several inherited metabolic disorders (IMDs), the enzyme deficiency results in increased concentrations of toxic metabolites and tissue damage. Delivery of nucleic acids (DNA or RNA) to hepatocytes by viral or nonviral vectors can prevent metabolite intoxication. In this article, we review approaches and challenges for liver-directed gene therapy in selected IMDs. image

引用

页码：2372 / 2384

页数：13

共 98 条

[21] Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy [J].

Chand, Deepa ;

Mohr, Franziska ;

McMillan, Hugh ;

Tukov, Francis Fonyuy ;

Montgomery, Kyle ;

Kleyn, Aaron ;

Sun, Rui ;

Tauscher-Wisniewski, Sitra ;

Kaufmann, Petra ;

Kullak-Ublick, Gerd .

JOURNAL OF HEPATOLOGY, 2021, 74 (03) :560-566

[22] Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series [J].

Chand, Deepa H. ;

Zaidman, Craig ;

Arya, Kapil ;

Millner, Rachel ;

Farrar, Michelle A. ;

Mackie, Fiona E. ;

Goedeker, Natalie L. ;

Dharnidharka, Vikas R. ;

Dandamudi, Raja ;

Reyna, Sandra P. .

JOURNAL OF PEDIATRICS, 2021, 231 :265-268

[23] Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy [J].

Chandler, Randy J. ;

LaFave, Matthew C. ;

Varshney, Gaurav K. ;

Trivedi, Niraj S. ;

Carrillo-Carrasco, Nuria ;

Senac, Julien S. ;

Wu, Weiwei ;

Hoffmann, Victoria ;

Elkahloun, Abdel G. ;

Burgess, Shawn M. ;

Venditti, Charles P. .

JOURNAL OF CLINICAL INVESTIGATION, 2015, 125 (02) :870-880

[24] Non-viral Delivery of Zinc Finger Nuclease mRNA Enables Highly Efficient In Vivo Genome Editing of Multiple Therapeutic Gene Targets [J].

Conway, Anthony ;

Mendel, Matthew ;

Kim, Kenneth ;

McGovern, Kyle ;

Boyko, Alisa ;

Zhang, Lei ;

Miller, Jeffrey C. ;

DeKelver, Russell C. ;

Paschon, David E. ;

Mui, Barbara L. ;

Lin, Paulo J. C. ;

Tam, Ying K. ;

Barbosa, Chris ;

Redelmeier, Tom ;

Holmes, Michael C. ;

Lee, Gary .

MOLECULAR THERAPY, 2019, 27 (04) :866-877

[25] Gene delivery to the juvenile mouse liver using AAV2/8 vectors [J].

Cunningham, Sharon C. ;

Dane, Allison P. ;

Spinoulas, Afroditi ;

Alexander, Ian E. .

MOLECULAR THERAPY, 2008, 16 (06) :1081-1088

[26] Gene Therapy in Patients with the Crigler-Najjar Syndrome [J].

D'Antiga, Lorenzo ;

Beuers, Ulrich ;

Ronzitti, Giuseppe ;

Brunetti-Pierri, Nicola ;

Baumann, Ulrich ;

Di Giorgio, Angelo ;

Aronson, Sem ;

Hubert, Aurelie ;

Romano, Roberta ;

Junge, Norman ;

Bosma, Piter ;

Bortolussi, Giulia ;

Muro, Andres F. ;

Soumoudronga, Ravaka F. ;

Veron, Philippe ;

Collaud, Fanny ;

Knuchel-Legendre, Nathalie ;

Labrune, Philippe ;

Mingozzi, Federico .

NEW ENGLAND JOURNAL OF MEDICINE, 2023, 389 (07) :620-631

[27] Coupling AAV-mediated promoterless gene targeting to SaCas9 nuclease to efficiently correct liver metabolic diseases [J].

De Caneva, Alessia ;

Porro, Fabiola ;

Bortolussi, Giulia ;

Sola, Riccardo ;

Lisjak, Michela ;

Barzel, Adi ;

Giacca, Mauro ;

Kay, Mark A. ;

Vlahovicek, Kristian ;

Zentilin, Lorena ;

Muro, Andres F. .

JCI INSIGHT, 2019, 4 (15)

[28] Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector [J].

De Sabbata, Giulia ;

Boisgerault, Florence ;

Guarnaccia, Corrado ;

Iaconcig, Alessandra ;

Bortolussi, Giulia ;

Collaud, Fanny ;

Ronzitti, Giuseppe ;

Sola, Marcelo Simon ;

Vidal, Patrice ;

Rouillon, Jeremy ;

Charles, Severine ;

Nicastro, Emanuele ;

D'Antiga, Lorenzo ;

Ilyinskii, Petr ;

Mingozzi, Federico ;

Kishimoto, Takashi Kei ;

Muro, Andres F. .

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT, 2021, 20 :169-180

[29] Quantitative analysis of the packaging capacity of recombinant adeno-associated virus [J].

Dong, JY ;

Fan, PD ;

Frizzell, RA .

HUMAN GENE THERAPY, 1996, 7 (17) :2101-2112

[30]

Enache OM, 2020, NAT GENET, V52, P662, DOI 10.1038/s41588-020-0623-4

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