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...
Autores principales: | , , |
---|---|
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 |