Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.

Masanori InoueWulan Apridita SebastianShota SonodaHiroaki MiyaharaNobuyuki ShimizuHiroshi ShiraishiMiwako MaedaKumiko YanagiTadashi KanameReiko HanadaToshikatsu HanadaKenji Ihara

Published in: Orphanet journal of rare diseases (2024)

Our findings suggested that enhanced autophagy caused by biallelic LARS1 variants contributes to ILFS1-associated hepatic dysfunction. Furthermore, the larsb-I451F zebrafish model, which has a prolonged survival rate compared with the larsb-knockout model, highlights its potential utility as a tool for investigating the pathophysiology of ILFS1-associated liver dysfunction.

Keyphrases

oxidative stress
cell death
copy number
endoplasmic reticulum stress
intellectual disability
signaling pathway
insulin resistance
high fat diet
type diabetes
gene expression
metabolic syndrome
autism spectrum disorder
skeletal muscle
genome wide