From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency. Despite advancements in understanding the mechanisms of X-ALD, its pathophysio...

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Bibliographic Details
Published in:Lipids in health and disease 2024-11, Vol.23 (1), p.369-11, Article 369
Main Authors: Zuo, Xinxin, Chen, Zeyu
Format: Article
Language:English
Subjects:
ABCD1
Adrenoleukodystrophy
Adrenoleukodystrophy - genetics
Adrenoleukodystrophy - therapy
Amino acids
Animals
ATP Binding Cassette Transporter, Subfamily D, Member 1 - genetics
Care and treatment
Fatty acids
Fatty Acids - metabolism
Gene mutations
Gene therapy
Genes
Genetic aspects
Genetic mutations
Genetic Therapy - methods
Health aspects
Humans
Medical research
Medicine, Experimental
Mutation
Neurological decline
Physiological aspects
Review
Very-long-chain fatty acids (VLCFAs)
X-linked adrenoleukodystrophy (X-ALD)
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Summary:X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency. Despite advancements in understanding the mechanisms of X-ALD, its pathophysiology remains incompletely understood, complicating the development of effective treatments. This review provides a comprehensive overview of X-ALD, with a focus on the genetic and biochemical roles of ABCD1 and the impacts of its mutations. Current therapeutic approaches are evaluated, discussing their limitations, and emphasizing the need to fully elucidate the pathogenesis of X-ALD. Additionally, this review highlights the importance of international collaboration to enhance systematic data collection and advance biomarker discovery, ultimately improving patient outcomes with X-ALD.
ISSN:1476-511X
1476-511X
DOI:10.1186/s12944-024-02361-0