Transcriptomic analysis of identical twins with different onset ages of adrenoleukodystrophy.

ABSTRACT:

Introduction

Adrenoleukodystrophy (ALD) is a rare X-linked neurogenetic disease caused by mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene. Currently, the molecular mechanisms underlying the onset and severity of ALD remain unclear. Therefore, the aim of this study is to identify information on candidate genes associated with the onset and severity of ALD by transcriptome sequencing of whole blood samples from monozygotic twin families with the disease.

Methods

The identification of differentially expressed genes (DEGs), set theory analysis, gene enrichment analysis, and classification statistics of expression trends have been executed to acquire potential candidate genes inducing the onset and severity of ALD in patients. The study cohort compr

SUBMITTER: Fu C 

PROVIDER: S-EPMC12615386 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature