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Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders

The past decade has witnessed an expansion of molecular approaches facilitating the differential diagnosis of ectodermal dysplasias, a group of genetic diseases characterized by the lack or malformation of hair, teeth, nails, and certain eccrine glands. Moreover, advances in translational research h...

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Autor principal: Schneider, Holm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485875/
https://www.ncbi.nlm.nih.gov/pubmed/36147498
http://dx.doi.org/10.3389/fgene.2022.1000744
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author Schneider, Holm
author_facet Schneider, Holm
author_sort Schneider, Holm
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description The past decade has witnessed an expansion of molecular approaches facilitating the differential diagnosis of ectodermal dysplasias, a group of genetic diseases characterized by the lack or malformation of hair, teeth, nails, and certain eccrine glands. Moreover, advances in translational research have increased the therapeutic opportunities for such rare diseases, and new dental, surgical, and ophthalmic treatment options are likely to offer relief to many individuals affected by ectodermal dysplasias. In X-linked hypohidrotic ectodermal dysplasia (XLHED), the genetic deficiency of the signaling molecule ectodysplasin A1 (EDA1) may even be overcome before birth by administration of a recombinant replacement protein. This has been shown at least for the key problem of male subjects with XLHED, the nearly complete absence of sweat glands and perspiration which can lead to life-threatening hyperthermia. Prenatal treatment of six boys by injection of an EDA1 replacement protein into the amniotic fluid consistently induced the development of functional sweat glands. Normal ability to sweat has so far persisted for >5 years in the two oldest boys treated in utero. Thus, timely replacement of a missing protein appears to be a promising therapeutic strategy for the most frequent ectodermal dysplasia and possibly additional congenital disorders.
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spelling pubmed-94858752022-09-21 Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders Schneider, Holm Front Genet Genetics The past decade has witnessed an expansion of molecular approaches facilitating the differential diagnosis of ectodermal dysplasias, a group of genetic diseases characterized by the lack or malformation of hair, teeth, nails, and certain eccrine glands. Moreover, advances in translational research have increased the therapeutic opportunities for such rare diseases, and new dental, surgical, and ophthalmic treatment options are likely to offer relief to many individuals affected by ectodermal dysplasias. In X-linked hypohidrotic ectodermal dysplasia (XLHED), the genetic deficiency of the signaling molecule ectodysplasin A1 (EDA1) may even be overcome before birth by administration of a recombinant replacement protein. This has been shown at least for the key problem of male subjects with XLHED, the nearly complete absence of sweat glands and perspiration which can lead to life-threatening hyperthermia. Prenatal treatment of six boys by injection of an EDA1 replacement protein into the amniotic fluid consistently induced the development of functional sweat glands. Normal ability to sweat has so far persisted for >5 years in the two oldest boys treated in utero. Thus, timely replacement of a missing protein appears to be a promising therapeutic strategy for the most frequent ectodermal dysplasia and possibly additional congenital disorders. Frontiers Media S.A. 2022-09-06 /pmc/articles/PMC9485875/ /pubmed/36147498 http://dx.doi.org/10.3389/fgene.2022.1000744 Text en Copyright © 2022 Schneider. 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 Genetics
Schneider, Holm
Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title_full Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title_fullStr Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title_full_unstemmed Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title_short Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
title_sort ectodermal dysplasias: new perspectives on the treatment of so far immedicable genetic disorders
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485875/
https://www.ncbi.nlm.nih.gov/pubmed/36147498
http://dx.doi.org/10.3389/fgene.2022.1000744
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