Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism.

Scientific Reports
Dennis J KonczykArin K Greene

Abstract

Extracranial arteriovenous malformation (AVM) is most commonly caused by MAP2K1 mutations in the endothelial cell. The purpose of this study was to determine if local tissue overgrowth associated with AVM is caused by direct or indirect effects of the MAP2K1 mutation (i.e., cell-autonomous or cell-non autonomous). Because cartilage does not have blood vessels, we studied ear AVMs to determine if overgrown cartilage contained AVM-causing mutations. Cartilage was separated from its surrounding tissue and isolated by laser capture microdissection. Droplet digital PCR (ddPCR) was used to identify MAP2K1 mutations. MAP2K1 (p.K57N) variants were present in the tissue adjacent to the cartilage [mutant allele frequency (MAF) 6-8%], and were enriched in endothelial cells (MAF 51%) compared to non-endothelial cells (MAF 0%). MAP2K1 mutations were not identified in the overgrown cartilage, and thus local cartilage overgrowth likely results from the effects of adjacent mutant blood vessels (i.e., cell-non autonomous).

References

Mar 29, 2005·Plastic and Reconstructive Surgery·June K WuJohn B Mulliken
Feb 3, 2009·The Journal of Craniofacial Surgery·Arin K GreeneJohn B Mulliken
Mar 26, 2010·Plastic and Reconstructive Surgery·Allen S LiuArin K Greene
Nov 26, 2010·Clinics in Plastic Surgery·Arin K GreeneAhmad I Alomari
Nov 26, 2010·Clinics in Plastic Surgery·Arin K Greene, Ahmad I Alomari
Jun 5, 2012·American Journal of Human Genetics·Kyle C KurekMatthew L Warman
Sep 15, 2015·Plastic and Reconstructive Surgery·Javier A CoutoArin K Greene
Feb 14, 2017·American Journal of Human Genetics·Javier A CoutoArin K Greene
Apr 27, 2018·Plastic and Reconstructive Surgery·Arin K Greene, Jeremy A Goss

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Citations

Dec 5, 2020·The Journal of Craniofacial Surgery·Arin K Greene, Christopher L Sudduth

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Methods Mentioned

BETA
pharmacotherapy
Laser capture microdissection
PCR

Software Mentioned

SPOT
QuantaSoft Software

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