2026-04-27T08:02:37Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/238312024-11-29T00:42:14Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc 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 author 2024-01-05 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. 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/s41598-023-50212-2 10.1038/s41598-023-50212-2 2045-2322 Scientific reports 2-s2.0-85181486276 L643184481 Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv)