Identification of the Precise Developmental Window and Tissue Bed for the Somatic Mutation Causing Sturge Weber Syndrome

Abstract

Sturge Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a capillary vascular malformation. The vascular malformation affects the skin in the distribution of the ophthalmic branch of the trigeminal nerve, and abnormal capillary venous vessels in the leptomeninges of the brain and choroid, leading to glaucoma, seizures, stroke, and intellectual disability. In 2013, a somatic mutation (c.548GA, p.R183Q) in GNAQ (encoding Gq) was identified in affected tissue from Sturge Weber Syndrome. This Gq signaling pathway has been extensively studied in other biological and disease (cancer) contexts, and thus, potential drugs are already available. In addition, novel therapies that target this pathway are currently under development in biotech/pharma drug pipelines. The discovery of the cause of Sturge Weber Syndrome as this specific somatic activating mutation brought great hope of a scientifically-based treatment.

Open PDF

Document Details

Document Type
Technical Report
Publication Date
May 01, 2023
Accession Number
AD1209090

Entities

People

  • Douglas A Marchuk

Organizations

  • Duke University

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Biomedical Research
  • Blood
  • Blood Vessels
  • Brain
  • Cells
  • Central Nervous System
  • Congenital Abnormalities
  • Department Of Defense
  • Diseases
  • Embryos
  • Endothelial Cells
  • Gene Expression
  • Genes
  • Genetics
  • Identification
  • Medical Personnel
  • Nervous System
  • Nervous System Diseases
  • Proteins
  • Skin Diseases
  • Stem Cells
  • Vascular Malformations

Fields of Study

  • Biology
  • Medicine

Readers

  • Forest Ecology
  • Molecular and Cellular Biology
  • Neurotrauma and Rehabilitation Medicine.

Technology Areas

  • Biotechnology