Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy  

作　　者：Shruti V Palakuzhiyil Rita Christopher Sadanandavalli Retnaswami Chandra 

机构地区：[1]Department of Neurochemistry,National Institute of Mental Health and Neuro Sciences,Bengaluru 560029,India [2]Department of Neurology,Sri Ramakrishna Ashram Charitable Hospital,Trivandrum 695010,India

出　　处：《World Journal of Biological Chemistry》2020年第3期99-111,共13页世界生物化学杂志（英文版）（电子版）

基　　金：Supported by Department of Biotechnology,New Delhi,India.No.BT/PR26150/MED/12/768/2017.

摘　　要：X-linked adrenoleukodystrophy(X-ALD),an inborn error of peroxisomalβ-oxidation,is caused by defects in the ATP Binding Cassette Subfamily D Member 1(ABCD1)gene.X-ALD patients may be asymptomatic or present with several clinical phenotypes varying from severe to mild,severe cerebral adrenoleukodystrophy to mild adrenomyeloneuropathy(AMN).Although most female heterozygotes present with AMN-like symptoms after 60 years of age,occasional cases of females with the cerebral form have been reported.Phenotypic variability has been described within the same kindreds and even among monozygotic twins.There is no association between the nature of ABCD1 mutation and the clinical phenotypes,and the molecular basis of phenotypic variability in X-ALD is yet to be resolved.Various genetic,epigenetic,and environmental influences are speculated to modify the disease onset and severity.In this review,we summarize the observations made in various studies investigating the potential modifying factors regulating the clinical manifestation of X-ALD,which could help understand the pathogenesis of the disease and develop suitable therapeutic strategies.

关 键 词：X-adrenoleukodystrophy Cerebral adrenoleukodystrophy ADRENOMYELONEUROPATHY Phenotypic variation MODIFIERS 

分 类 号：R586[医药卫生—内分泌]