Modeling PNPLA3-Associated NAFLD Using Human-Induced Pluripotent Stem Cells.

ABSTRACT:

Background and aims

NAFLD is a growing public health burden. However, the pathogenesis of NAFLD has not yet been fully elucidated, and the importance of genetic factors has only recently been appreciated. Genomic studies have revealed a strong association between NAFLD progression and the I148M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3). Nonetheless, very little is known about the mechanisms by which this gene and its variants can influence disease development. To investigate these mechanisms, we have developed an in vitro model that takes advantage of the unique properties of human-induced pluripotent stem cells (hiPSCs) and the CRISPR/CAS9 gene editing technology.

Approach and results

We used isogenic hiPSC lines with either a knockout (PNPL

SUBMITTER: Tilson SG 

PROVIDER: S-EPMC11497257 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature