Cargando…
Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin
Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486943/ https://www.ncbi.nlm.nih.gov/pubmed/37685316 http://dx.doi.org/10.3390/diagnostics13172778 |
_version_ | 1785103116919635968 |
---|---|
author | Fernández-Gomez, Beatriz Menao-Guillén, Sebastian Fernandez Gonzalez, Ayla Arruebo Muñio, Maria Ramos Alvarez, Monica Inda Landaluce, Mercedes Castillo Arce, Maria Angeles Torralba-Cabeza, Miguel Ángel |
author_facet | Fernández-Gomez, Beatriz Menao-Guillén, Sebastian Fernandez Gonzalez, Ayla Arruebo Muñio, Maria Ramos Alvarez, Monica Inda Landaluce, Mercedes Castillo Arce, Maria Angeles Torralba-Cabeza, Miguel Ángel |
author_sort | Fernández-Gomez, Beatriz |
collection | PubMed |
description | Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL. Results: Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected. Conclusions: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency. |
format | Online Article Text |
id | pubmed-10486943 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104869432023-09-09 Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin Fernández-Gomez, Beatriz Menao-Guillén, Sebastian Fernandez Gonzalez, Ayla Arruebo Muñio, Maria Ramos Alvarez, Monica Inda Landaluce, Mercedes Castillo Arce, Maria Angeles Torralba-Cabeza, Miguel Ángel Diagnostics (Basel) Article Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL. Results: Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected. Conclusions: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency. MDPI 2023-08-28 /pmc/articles/PMC10486943/ /pubmed/37685316 http://dx.doi.org/10.3390/diagnostics13172778 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Fernández-Gomez, Beatriz Menao-Guillén, Sebastian Fernandez Gonzalez, Ayla Arruebo Muñio, Maria Ramos Alvarez, Monica Inda Landaluce, Mercedes Castillo Arce, Maria Angeles Torralba-Cabeza, Miguel Ángel Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title | Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title_full | Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title_fullStr | Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title_full_unstemmed | Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title_short | Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin |
title_sort | utility of the serum protein electrophoresis in the opportunistic screening for the deficiency of alpha-1 antitrypsin |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486943/ https://www.ncbi.nlm.nih.gov/pubmed/37685316 http://dx.doi.org/10.3390/diagnostics13172778 |
work_keys_str_mv | AT fernandezgomezbeatriz utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT menaoguillensebastian utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT fernandezgonzalezayla utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT arruebomuniomaria utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT ramosalvarezmonica utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT indalandalucemercedes utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT castilloarcemariaangeles utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin AT torralbacabezamiguelangel utilityoftheserumproteinelectrophoresisintheopportunisticscreeningforthedeficiencyofalpha1antitrypsin |