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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Human Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnhum.2022.1006027/full |
| _version_ | 1798045605216387072 |
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| author | William K. Van Trigt Kristen M. Kelly Christopher C. W. Hughes |
| author_facet | William K. Van Trigt Kristen M. Kelly Christopher C. W. Hughes |
| author_sort | William K. Van Trigt |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T23:23:43Z |
| format | Article |
| id | doaj.art-c6e8b80429be423e9b6302e8a0afbfe3 |
| institution | Directory Open Access Journal |
| issn | 1662-5161 |
| language | English |
| last_indexed | 2024-04-11T23:23:43Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Human Neuroscience |
| spelling | doaj.art-c6e8b80429be423e9b6302e8a0afbfe32022-12-22T03:57:23ZengFrontiers Media S.A.Frontiers in Human Neuroscience1662-51612022-11-011610.3389/fnhum.2022.10060271006027GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current modelsWilliam K. Van Trigt0Kristen M. Kelly1Christopher C. W. Hughes2Department of Molecular Biology and Biochemistry, School of Biological Sciences, University of California, Irvine, Irvine, CA, United StatesDepartment of Dermatology, School of Medicine, University of California, Irvine, Irvine, CA, United StatesDepartment of Molecular Biology and Biochemistry, School of Biological Sciences, University of California, Irvine, Irvine, CA, United StatesPort-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.https://www.frontiersin.org/articles/10.3389/fnhum.2022.1006027/fullGNAQguanine nucleotide binding protein alpha subunit qGαqport wine birthmarkSturge-Weber syndromebrain vascular malformation |
| spellingShingle | William K. Van Trigt Kristen M. Kelly Christopher C. W. Hughes GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models Frontiers in Human Neuroscience GNAQ guanine nucleotide binding protein alpha subunit q Gαq port wine birthmark Sturge-Weber syndrome brain vascular malformation |
| 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 | GNAQ guanine nucleotide binding protein alpha subunit q Gαq port wine birthmark Sturge-Weber syndrome brain vascular malformation |
| url | https://www.frontiersin.org/articles/10.3389/fnhum.2022.1006027/full |
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