2026-04-27T08:02:37Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/238312024-11-29T00:42:14Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud
author
González-Moreno, Juan
author
Gragera-Martínez, Álvaro
author
Rodríguez, Adrián
author
Borrachero-Garro, Cristina
author
García-Garrido, Sandra
author
Barceló, Carles
author
Manovel-Sánchez, Ana
author
Ribot-Sansó, Maria Antonia
author
Ibargüen-González, Lesly
author
Gomila, Rosa
author
Muñoz-Beamud, Francisco
author
Losada-López, Inés
author
Cisneros-Barroso, Eugenia
2024-10-09T07:09:18Z
2024-10-09T07:09:18Z
2024-01-05
González-Moreno J, Gragera-Martínez Á, Rodríguez A, Borrachero-Garro C, García-Garrido S, Barceló C, et al. Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv). Sci Rep. 2024 Jan 5;14(1):581.
https://hdl.handle.net/20.500.13003/20128
https://hdl.handle.net/20.500.12105/23831
38182630
10.1038/s41598-023-50212-210.1038/s41598-023-50212-2
2045-2322
Scientific reports
2-s2.0-85181486276
L643184481
Early identification of ATTRv amyloidosis disease onset is still often delayed due to the lack of validated biomarkers of this disease. Light chain neurofilament (NfL) have shown promising results in early diagnosis in this disease, but data is still needed, including with alternative measuring methods. Our aim was to study the levels of NfL measured by ELISA. Furthermore, interstitial matrix metalloproteinase type 1 (MMP-1) serum levels were measured as a potential new biomarker in ATTRv. Serum NfL and MMP-1 were measured using ELISA assays in 90 participants (29 ATTR-V30M patients, 31 asymptomatic V30M-TTR variant carriers and 30 healthy controls). Median NfL levels among ATTRv amyloidosis patients were significantly higher (116�pg/mL vs 0�pg/mL in both comparison groups). The AUC comparing ATTRv amyloidosis patients and asymptomatic carriers was 0.90 and the NfL concentration of 93.55�pg/mL yielded a sensitivity of 79% and a specificity of 87%. NfL levels had a significant positive correlation with NIS values among patients. We found a negative significant correlation between eGFR and NfL levels. Finally, MMP1 levels were not different between groups. Evidence of NfL use for early diagnosis of ATTR-PN amyloidosis is growing. ELISA seems a reliable and available technique for it quantification. Decreased GFR could influence NfL plasma levels.
eng
Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv)
research article