Related Experiment Video

Updated: Jan 25, 2026

Driving Under the Influence: How Music Listening Affects Driving Behaviors
07:25

Driving Under the Influence: How Music Listening Affects Driving Behaviors

Published on: March 27, 2019

13.0K

RUNX represses Pmp22 to drive neurofibromagenesis

Ashley Hall1, Kwangmin Choi1, Wei Liu1

  • 1Cincinnati Children's Hospital Medical Center, Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, University of Cincinnati, 3333 Burnet Ave., Cincinnati, OH 45229, USA.

Science Advances
|April 30, 2019
PubMed

Insights

Neurofibromatosis type 1 (NF1) patients develop neurofibromas. RUNX1/3 suppression of Pmp22 in Schwann cells drives neurofibroma initiation. Targeting RUNX/CBFB interaction may offer new NF1 therapies.

Area of Science:

  • Oncology
  • Genetics
  • Cell Biology

Background:

  • Neurofibromatosis type 1 (NF1) patients are prone to developing neurofibromas.
  • The molecular mechanisms driving neurofibroma development remain unclear.
  • Schwann cells (SCs) and their precursors are implicated in neurofibromagenesis.

Purpose of the Study:

  • To investigate the role of RUNX1 and RUNX3 in neurofibroma development.
  • To identify molecular targets for potential NF1 therapies.

Main Methods:

  • Dual genetic deletion of Runx1 and Runx3 in mouse SCs and SC precursors.
  • Investigating the role of peripheral myelin protein 22 (Pmp22) in neurofibroma initiation.
  • Using short hairpin RNAs for Pmp22 knockdown and Pmp22 overexpression in SCs.
  • Assessing neurofibroma-like microlesions and tumor-derived sphere numbers.
  • Pharmacological inhibition of RUNX/core-binding factor beta (CBFB) activity.

Main Results:

  • Dual deletion of Runx1 and Runx3 delayed neurofibroma formation and improved mouse survival.
  • Pmp22 was identified as a key factor in neurofibroma initiation.
  • Pmp22 knockdown increased tumor sphere numbers and neurofibroma-like lesions.
  • Pmp22 overexpression reduced SC proliferation.
  • RUNX1/3 regulate Pmp22 expression to control SC growth.
  • Pharmacological inhibition of RUNX/CBFB significantly reduced tumor volume.

Conclusions:

  • A signaling pathway involving RUNX1/3 suppression of Pmp22 is crucial for neurofibroma initiation and maintenance.
  • Targeting the RUNX/CBFB interaction presents a potential therapeutic strategy for NF1 patients.

More Related Videos

Tactile Vibrating Toolkit and Driving Simulation Platform for Driving-Related Research07:15

Tactile Vibrating Toolkit and Driving Simulation Platform for Driving-Related Research

Published on: December 18, 2020

4.9K
Micro-drive Array for Chronic in vivo Recording: Drive Fabrication14:03

Micro-drive Array for Chronic in vivo Recording: Drive Fabrication

Published on: April 20, 2009

25.8K

Related Concept Videos

Repressed Memory01:16

Repressed Memory

Repressed memories are a psychological phenomenon where memories of traumatic events are unconsciously blocked from a person's awareness. This process occurs as a defense mechanism, protecting the mind from the emotional impact of distressing or painful experiences. For example, a person who has experienced childhood trauma may grow up with no conscious recollection of the event. In such cases, the memories are thought to be buried deep within the subconscious, inaccessible to the conscious...
508
Repressible Operon: trp Operon01:21

Repressible Operon: trp Operon

The trp operon in Escherichia coli exemplifies a repressible operon. It regulates the synthesis of tryptophan through repressor-mediated transcriptional control and attenuation. This dual regulatory mechanism ensures tryptophan biosynthesis occurs only when needed, conserving cellular resources.Structure of the trp OperonThe trp operon consists of five structural genes (trpE, trpD, trpC, trpB, and trpA) that encode enzymes for tryptophan biosynthesis. These genes are transcribed as a single...
1.5K
Energy to Drive Translocation01:37

Energy to Drive Translocation

Mitochondrial protein import is powered by two distinct energy sources: ATP hydrolysis and electrochemical potential across the inner membrane. Newly synthesized precursors are bound by cytosolic chaperones of the Hsp70 family, which guide them to the import receptors on the mitochondrial surface. Utilizing the energy of ATP hydrolysis, Hsp70 chaperones transfer these precursors to the TOM receptors on the mitochondrial outer membrane.
Generally, polypeptides are unfolded by two distinct...
2.7K
M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
6.4K
Drive-Reduction Theory: Push Theory of Motivation01:27

Drive-Reduction Theory: Push Theory of Motivation

Clark Hull's drive-reduction theory, introduced in the 1940s and 1950s and often termed the "push theory" of motivation, provides a framework for understanding how biological and learned drives influence behavior. Hull suggested that motivation originates from the need to alleviate physiological tension caused by unmet biological necessities. The theory proposes that when a basic need, such as hunger or sleep, goes unfulfilled, it creates an internal imbalance. This imbalance, or...
1.2K
Euchromatin01:01

Euchromatin

The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions take up more dye, appearing darker, while the less-compact areas take up less dye and appear lighter. Based on the compaction level, chromatins are classified into two primary forms – euchromatin and heterochromatin.
Euchromatin is the less dense region of the chromatin and stains lighter. Euchromatin contains histone H3 extensively...
8.8K