Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated human Schwann cell proliferation.

ABSTRACT:

Background

NF2-related Schwannomatosis (previously referred to as Neurofibromatosis Type 2, or NF2) is a genetic-associated disease resulting from mutations in the gene, NF2. NF2 encodes the Merlin protein, which acts as a tumor suppressor. Bilateral vestibular schwannoma (VS) is a hallmark of NF2. Although the exactly molecular mechanism mediating NF2-driven schwannomatosis is not fully understood, it is known that defective Merlin protein functionality leads to abnormal cell proliferation.

Methods

Herein, we utilized a human induced pluripotent stem cell (hiPSC)-based Schwann cell (SC) model to investigate the role of Merlin in human SCs. SCs were derived from hiPSCs carrying a NF2 mutation (c.191 T > C; p. L64P), its isogenic wild-type control cell line, and a NF2 patient

SUBMITTER: Tang PC 

PROVIDER: S-EPMC11972516 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature