Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient alpha-galactosidase A ( alpha-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and genet...
| Autores: | , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2024 |
| País: | España |
| Institución: | Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL) |
| Repositorio: | r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante |
| OAI Identifier: | oai:isabial.fundanetsuite.com:p10180 |
| Acceso en línea: | https://isabial.portalinvestigacion.com/publicaciones10180 https://www.translationalres.com/article/S1931-5244(24)00035-5/fulltext |
| Access Level: | acceso abierto |
| Palabra clave: | Fabry disease Biomarkers Proteomics Plasma Clinical phenotypes Sex |
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkersLópez-Valverde, LVázquez-Mosquera, MEColón-Mejeras, CBravo, SBBarbosa-Gouveia, SAlvarez, JVSánchez-Martínez, RLópez-Mendoza, MLópez-Rodríguez, MVillacorta-Argüelles, EGoicoechea-Diezhandino, MAGuerrero-Márquez, FJOrtolano, SLeao-Teles, EHermida-Ameijeiras, ACouce, MLFabry diseaseBiomarkersProteomicsPlasmaClinical phenotypesSexFabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient alpha-galactosidase A ( alpha-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and genetic test results that do not correlate with clinical course. We sought to identify potential biomarkers of FD to better understand the underlying pathophysiology and clinical phenotypes. We compared the plasma proteomes of 50 FD patients and 50 matched healthy controls using DDA and SWATH-MS. The >30 proteins that were differentially expressed between the 2 groups included proteins implicated in processes such as inflammation, heme and haemoglobin metabolism, oxidative stress, coagulation, complement cascade, glucose and lipid metabolism, and glycocalyx formation. Stratification by sex revealed that certain proteins were differentially expressed in a sex-dependent manner. Apolipoprotein A -IV was upregulated in FD patients with complications, especially those with chronic kidney disease, and apolipoprotein C -III and fetuin-A were identified as possible markers of FD with left ventricular hypertrophy. All these proteins had a greater capacity to identify the presence of complications in FD patients than lyso-GB3, with apolipoprotein A -IV standing out as being more sensitive and effective in differentiating the presence and absence of chronic kidney disease in FD patients than renal markers such as creatinine, glomerular filtration rate and microalbuminuria. Identification of these potential biomarkers can help further our understanding of the pathophysiological processes that underlie the heterogeneous clinical manifestations associated with FD.ELSEVIER SCIENCE INC2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://isabial.portalinvestigacion.com/publicaciones10180https://www.translationalres.com/article/S1931-5244(24)00035-5/fulltextTranslational ResearchISSN: 19315244ISSNe: 18781810reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteinstname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)Inglésinfo:eu-repo/semantics/openAccessoai:isabial.fundanetsuite.com:p101802026-06-12T10:20:37Z |
| dc.title.none.fl_str_mv |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| title |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| spellingShingle |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers López-Valverde, L Fabry disease Biomarkers Proteomics Plasma Clinical phenotypes Sex |
| title_short |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| title_full |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| title_fullStr |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| title_full_unstemmed |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| title_sort |
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers |
| dc.creator.none.fl_str_mv |
López-Valverde, L Vázquez-Mosquera, ME Colón-Mejeras, C Bravo, SB Barbosa-Gouveia, S Alvarez, JV Sánchez-Martínez, R López-Mendoza, M López-Rodríguez, M Villacorta-Argüelles, E Goicoechea-Diezhandino, MA Guerrero-Márquez, FJ Ortolano, S Leao-Teles, E Hermida-Ameijeiras, A Couce, ML |
| author |
López-Valverde, L |
| author_facet |
López-Valverde, L Vázquez-Mosquera, ME Colón-Mejeras, C Bravo, SB Barbosa-Gouveia, S Alvarez, JV Sánchez-Martínez, R López-Mendoza, M López-Rodríguez, M Villacorta-Argüelles, E Goicoechea-Diezhandino, MA Guerrero-Márquez, FJ Ortolano, S Leao-Teles, E Hermida-Ameijeiras, A Couce, ML |
| author_role |
author |
| author2 |
Vázquez-Mosquera, ME Colón-Mejeras, C Bravo, SB Barbosa-Gouveia, S Alvarez, JV Sánchez-Martínez, R López-Mendoza, M López-Rodríguez, M Villacorta-Argüelles, E Goicoechea-Diezhandino, MA Guerrero-Márquez, FJ Ortolano, S Leao-Teles, E Hermida-Ameijeiras, A Couce, ML |
| author2_role |
author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Fabry disease Biomarkers Proteomics Plasma Clinical phenotypes Sex |
| topic |
Fabry disease Biomarkers Proteomics Plasma Clinical phenotypes Sex |
| description |
Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient alpha-galactosidase A ( alpha-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and genetic test results that do not correlate with clinical course. We sought to identify potential biomarkers of FD to better understand the underlying pathophysiology and clinical phenotypes. We compared the plasma proteomes of 50 FD patients and 50 matched healthy controls using DDA and SWATH-MS. The >30 proteins that were differentially expressed between the 2 groups included proteins implicated in processes such as inflammation, heme and haemoglobin metabolism, oxidative stress, coagulation, complement cascade, glucose and lipid metabolism, and glycocalyx formation. Stratification by sex revealed that certain proteins were differentially expressed in a sex-dependent manner. Apolipoprotein A -IV was upregulated in FD patients with complications, especially those with chronic kidney disease, and apolipoprotein C -III and fetuin-A were identified as possible markers of FD with left ventricular hypertrophy. All these proteins had a greater capacity to identify the presence of complications in FD patients than lyso-GB3, with apolipoprotein A -IV standing out as being more sensitive and effective in differentiating the presence and absence of chronic kidney disease in FD patients than renal markers such as creatinine, glomerular filtration rate and microalbuminuria. Identification of these potential biomarkers can help further our understanding of the pathophysiological processes that underlie the heterogeneous clinical manifestations associated with FD. |
| publishDate |
2024 |
| dc.date.none.fl_str_mv |
2024 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://isabial.portalinvestigacion.com/publicaciones10180 https://www.translationalres.com/article/S1931-5244(24)00035-5/fulltext |
| url |
https://isabial.portalinvestigacion.com/publicaciones10180 https://www.translationalres.com/article/S1931-5244(24)00035-5/fulltext |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.publisher.none.fl_str_mv |
ELSEVIER SCIENCE INC |
| publisher.none.fl_str_mv |
ELSEVIER SCIENCE INC |
| dc.source.none.fl_str_mv |
Translational Research ISSN: 19315244 ISSNe: 18781810 reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante instname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL) |
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Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL) |
| reponame_str |
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante |
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r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante |
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