X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
Bela R TurkAnn B Moser

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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Citations

May 1, 2021·International Journal of Neonatal Screening·Jamie MattesonHao Tang
Sep 10, 2020·Neurología : publicación oficial de la Sociedad Española de Neurología·M I Morales-CasadoJ A Pérez-Matos
Jul 6, 2021·Molecular Genetics and Metabolism Reports·Yutaro YadaShouichi Ohga
Jul 2, 2021·BMC Medical Genomics·Zhuo ChangFeihong Luo

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Methods Mentioned

BETA
transgenic
environmental stress

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

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