Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms
Recommended Citation
Parasar P, Kaur N, and Singh J. Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms. J Biotechnol Biomed 2024; 7(2):277-288.
Document Type
Article
Publication Date
1-1-2024
Publication Title
J Biotechnol Biomed
Abstract
X-ALD, an inherited monogenic metabolic disorder affecting the CNS and adrenal white matter, is caused by mutations in ABCD1 gene leading to defective fatty acid oxidation in the peroxisomes. This results in accumulation of very long-chain fatty acids, VLCFA, into brain, spinal cord, and body fluids. A single ABCD1mutation does not clearly explain the severity and diverse clinical spectrum of X-ALD phenotypes which suggests that not only genetic but also other modifier genes, epigenetic factors, and environmental factors play a role and contribute to neuroinflammation, mitochondrial dysfunctions, oxidative stress, and metabolic defects seen in phenotypes of ALD. In this review we discuss genotype and phenotype correlation and clinical spectra of X-ALD, previous and recent modifier genetic factors of X-ALD, including novel role of microRNAs (miRNAs) in pathology and as biomarkers. We also discuss the mechanistic interplay of miRNAs and metabolic pathways and potential of targeting miRNAs for X-ALD.
PubMed ID
39056013
Volume
7
Issue
2
First Page
277
Last Page
288
