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Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies
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  • Chui Yan Ma,
  • Cheng Li,
  • Xiaoya Zhou,
  • Zhao Zhang,
  • Hua Jiang,
  • Hongsheng Liu,
  • Can Liao,
  • Qizhou Lian
Chui Yan Ma
University of Hong Kong
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Cheng Li
University of Hong Kong
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Xiaoya Zhou
Guangzhou Medical University
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Zhao Zhang
University of Hong Kong
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Hua Jiang
Guangzhou Medical University
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Hongsheng Liu
Guangzhou Medical University
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Can Liao
Guangzhou Medical University
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Qizhou Lian
University of Hong Kong

Corresponding Author:[email protected]

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Abstract

X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a peroxisomal transmembrane protein. It results in accumulation of very long chain fatty acids in tissues and body fluid. Along with other factors such as epigenetic and environmental involvement, ABCD1 mutation-provoked disorders can present different phenotypes including cerebral adrenoleukodystrophy (cALD), Adrenomyeloneuropathy (AMN), and Addison’s disease. cALD is a life-threatening form that causes death in young children. Bone marrow transplantation and hematopoietic stem cell gene therapy are only effective when performed at an early stage of onsets in cALD. Nonetheless, current research and development of novel therapies are hampered by a lack of in-depth understanding disease pathophysiology and a lack of reliable cALD models. The ABCD1- and ABCD1-/ABCD2-/- mouse models and ABCD1- rabbit models created in our lab, do not develop cALD phenotypes observed in human being. In this review, we summarize the clinical and biochemical features of X-ALD, the progress of pre-clinical and clinical studies. Challenges and perspectives for future X-ALD studies are also discussed.