Multiomics Approach Reveal Novel Insights in FUS Driven Juvenile Amyotrophic Lateral Sclerosis: A Family Quartet Analysis.

ABSTRACT:

Background

Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe form of motor neuron disease characterized by progressive loss of upper and lower motor neurons with an early onset (<25 years).

Purpose

Due to complex etiology and clinical heterogeneity, it is indispensable to unravel molecular mechanisms underlying JALS pathology. The study aimed to identify disease-specific signatures in a 14-years-old sporadic JALS patient.

Methods

Genomic, transcriptomic, and metabolomic analysis of proband and first-degree relatives (FDR).

Results

Exome sequencing identified a novel de novo frameshift variation (c.1465dupG: p.D490Gfs*26) in the fused in sarcoma (FUS) gene in proband. Interestingly, rare and potentially deleterious, disease-modifying vari

SUBMITTER: Verma S 

PROVIDER: S-EPMC12035040 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature