X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview...
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| Published in | International journal of developmental neuroscience Vol. 80; no. 1; pp. 52 - 72 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
John Wiley and Sons Inc
01.02.2020
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0736-5748 1873-474X 1873-474X |
| DOI | 10.1002/jdn.10003 |
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| Abstract | Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long‐chain fatty acid (VLCFA) chain length‐dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety‐specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD. |
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| AbstractList | Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long‐chain fatty acid (VLCFA) chain length‐dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety‐specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD. Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long‐chain fatty acid (VLCFA) chain length‐dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety‐specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD. Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long-chain fatty acid (VLCFA) chain length-dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety-specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD.Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long-chain fatty acid (VLCFA) chain length-dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety-specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD. |
| Author | Moser, Ann B. Turk, Bela R. Theda, Christiane Fatemi, Ali |
| AuthorAffiliation | 2 Neonatal Services Royal Women's Hospital Murdoch Children's Research Institute and University of Melbourne Melbourne VIC Australia 1 Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA |
| AuthorAffiliation_xml | – name: 1 Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA – name: 2 Neonatal Services Royal Women's Hospital Murdoch Children's Research Institute and University of Melbourne Melbourne VIC Australia |
| Author_xml | – sequence: 1 givenname: Bela R. surname: Turk fullname: Turk, Bela R. organization: Kennedy Krieger Institute – sequence: 2 givenname: Christiane surname: Theda fullname: Theda, Christiane organization: Murdoch Children's Research Institute and University of Melbourne – sequence: 3 givenname: Ali surname: Fatemi fullname: Fatemi, Ali organization: Kennedy Krieger Institute – sequence: 4 givenname: Ann B. surname: Moser fullname: Moser, Ann B. email: Mosera@kennedykrieger.org organization: Kennedy Krieger Institute |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31909500$$D View this record in MEDLINE/PubMed |
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| Keywords | very long-chain fatty acids clinical trials inflammation newborn screening therapy X-linked adrenoleukodystrophy |
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| Publisher | John Wiley and Sons Inc |
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| Snippet | Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of... Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of... Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of... |
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| SubjectTerms | Adrenoleukodystrophy - diagnosis ATP Binding Cassette Transporter, Subfamily D, Member 1 - genetics clinical trials Endoplasmic Reticulum Stress Humans Infant, Newborn inflammation Mutation Neonatal Screening newborn screening therapy very long‐chain fatty acids X‐linked adrenoleukodystrophy |
| Title | X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies |
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