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ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535978/ https://www.ncbi.nlm.nih.gov/pubmed/28696355 http://dx.doi.org/10.3390/ijms18071488 |
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author | Moitra, Karobi Garcia, Sonia Jaldin, Michelle Etoundi, Clementine Cooper, Donna Roland, Anna Dixon, Patrice Reyes, Sandra Turan, Sevilay Terry, Sharon Dean, Michael |
author_facet | Moitra, Karobi Garcia, Sonia Jaldin, Michelle Etoundi, Clementine Cooper, Donna Roland, Anna Dixon, Patrice Reyes, Sandra Turan, Sevilay Terry, Sharon Dean, Michael |
author_sort | Moitra, Karobi |
collection | PubMed |
description | Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included. Because of these initiatives, individuals affected by these conditions benefit by being scientifically informed about their condition, having an effective support mechanism, and also by contributing to scientific research efforts and banking of biological samples. This rapid progress would not have been possible without the aid of disease advocacy organizations such as PXE International. |
format | Online Article Text |
id | pubmed-5535978 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-55359782017-08-04 ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy Moitra, Karobi Garcia, Sonia Jaldin, Michelle Etoundi, Clementine Cooper, Donna Roland, Anna Dixon, Patrice Reyes, Sandra Turan, Sevilay Terry, Sharon Dean, Michael Int J Mol Sci Review Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included. Because of these initiatives, individuals affected by these conditions benefit by being scientifically informed about their condition, having an effective support mechanism, and also by contributing to scientific research efforts and banking of biological samples. This rapid progress would not have been possible without the aid of disease advocacy organizations such as PXE International. MDPI 2017-07-11 /pmc/articles/PMC5535978/ /pubmed/28696355 http://dx.doi.org/10.3390/ijms18071488 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Moitra, Karobi Garcia, Sonia Jaldin, Michelle Etoundi, Clementine Cooper, Donna Roland, Anna Dixon, Patrice Reyes, Sandra Turan, Sevilay Terry, Sharon Dean, Michael ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title | ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title_full | ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title_fullStr | ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title_full_unstemmed | ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title_short | ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy |
title_sort | abcc6 and pseudoxanthoma elasticum: the face of a rare disease from genetics to advocacy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535978/ https://www.ncbi.nlm.nih.gov/pubmed/28696355 http://dx.doi.org/10.3390/ijms18071488 |
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