Cargando…

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current de...

Descripción completa

Detalles Bibliográficos
Autores principales: Van Trigt, William K., Kelly, Kristen M., Hughes, Christopher C. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670321/
https://www.ncbi.nlm.nih.gov/pubmed/36405075
http://dx.doi.org/10.3389/fnhum.2022.1006027
_version_ 1784832309853159424
author Van Trigt, William K.
Kelly, Kristen M.
Hughes, Christopher C. W.
author_facet Van Trigt, William K.
Kelly, Kristen M.
Hughes, Christopher C. W.
author_sort Van Trigt, William K.
collection PubMed
description Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current in vivo and in vitro vascular malformation models.
format Online
Article
Text
id pubmed-9670321
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-96703212022-11-18 GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models Van Trigt, William K. Kelly, Kristen M. Hughes, Christopher C. W. Front Hum Neurosci Human Neuroscience Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current in vivo and in vitro vascular malformation models. Frontiers Media S.A. 2022-11-03 /pmc/articles/PMC9670321/ /pubmed/36405075 http://dx.doi.org/10.3389/fnhum.2022.1006027 Text en Copyright © 2022 Van Trigt, Kelly and Hughes. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Human Neuroscience
Van Trigt, William K.
Kelly, Kristen M.
Hughes, Christopher C. W.
GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title_full GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title_fullStr GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title_full_unstemmed GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title_short GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
title_sort gnaq mutations drive port wine birthmark-associated sturge-weber syndrome: a review of pathobiology, therapies, and current models
topic Human Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670321/
https://www.ncbi.nlm.nih.gov/pubmed/36405075
http://dx.doi.org/10.3389/fnhum.2022.1006027
work_keys_str_mv AT vantrigtwilliamk gnaqmutationsdriveportwinebirthmarkassociatedsturgewebersyndromeareviewofpathobiologytherapiesandcurrentmodels
AT kellykristenm gnaqmutationsdriveportwinebirthmarkassociatedsturgewebersyndromeareviewofpathobiologytherapiesandcurrentmodels
AT hugheschristophercw gnaqmutationsdriveportwinebirthmarkassociatedsturgewebersyndromeareviewofpathobiologytherapiesandcurrentmodels