000127906 001__ 127906
000127906 005__ 20241125101132.0
000127906 0247_ $$2doi$$a10.3390/diagnostics13172778
000127906 0248_ $$2sideral$$a135079
000127906 037__ $$aART-2023-135079
000127906 041__ $$aeng
000127906 100__ $$aFernández-Gomez, Beatriz
000127906 245__ $$aUtility of the serum protein electrophoresis in the opportunistic screening for the deficiency of Alpha-1 Antitrypsin
000127906 260__ $$c2023
000127906 5060_ $$aAccess copy available to the general public$$fUnrestricted
000127906 5203_ $$aBackground: 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.
000127906 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000127906 590__ $$a3.0$$b2023
000127906 592__ $$a0.667$$b2023
000127906 591__ $$aMEDICINE, GENERAL & INTERNAL$$b59 / 329 = 0.179$$c2023$$dQ1$$eT1
000127906 593__ $$aClinical Biochemistry$$c2023$$dQ2
000127906 594__ $$a4.7$$b2023
000127906 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000127906 700__ $$0(orcid)0000-0002-1817-4549$$aMenao-Guillén, Sebastian$$uUniversidad de Zaragoza
000127906 700__ $$aFernandez Gonzalez, Ayla
000127906 700__ $$0(orcid)0000-0002-9336-1563$$aArruebo Muñio, Maria
000127906 700__ $$aRamos Alvarez, Monica$$uUniversidad de Zaragoza
000127906 700__ $$aInda Landaluce, Mercedes
000127906 700__ $$aCastillo Arce, Maria Angeles
000127906 700__ $$0(orcid)0000-0001-9760-1248$$aTorralba-Cabeza, Miguel Ángel$$uUniversidad de Zaragoza
000127906 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000127906 7102_ $$11002$$2807$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Toxicología
000127906 773__ $$g13, 17 (2023), 2778 [9 pp]$$tDiagnostics$$x2075-4418
000127906 8564_ $$s891747$$uhttps://zaguan.unizar.es/record/127906/files/texto_completo.pdf$$yVersión publicada
000127906 8564_ $$s2752626$$uhttps://zaguan.unizar.es/record/127906/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000127906 909CO $$ooai:zaguan.unizar.es:127906$$particulos$$pdriver
000127906 951__ $$a2024-11-22-11:59:25
000127906 980__ $$aARTICLE