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Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis.
Costa-Rodrigues, Diogo; Leite, José P; Saraiva, Maria João; Almeida, Maria Rosário; Gales, Luís.
Afiliación
  • Costa-Rodrigues D; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal.
  • Leite JP; IBMC - Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal.
  • Saraiva MJ; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal.
  • Almeida MR; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal.
  • Gales L; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal.
Amyloid ; 31(3): 202-208, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38946492
ABSTRACT

BACKGROUND:

Genotyping and amyloid fibril detection in tissues are generally considered the diagnostic gold standard in transthyretin-related amyloidosis. Patients carry less stable TTR homotetramers prone to dissociation into non-native monomers, which rapidly self-assemble into oligomers and, ultimately, amyloid fibrils. Thus, the initial event of the amyloid cascade produces the smallest transthyretin species the monomers. This creates engineering opportunities for diagnosis that remain unexplored.

METHODS:

We hypothesise that molecular sieving represents a promising method for isolating and concentrating trace TTR monomers from the tetramers present in plasma samples. Subsequently, immunodetection can be utilised to distinguish monomeric TTR from other low molecular weight proteins within the adsorbed fraction. A two-step assay was devised (ImmunoSieve assay), combining molecular sieving and immunodetection for sensing monomeric transthyretin. This assay was employed to analyse plasma microsamples from 10 individuals, including 5 pre-symptomatic carriers of TTR-V30M, the most prevalent amyloidosis-associated TTR variant worldwide, and 5 healthy controls.

RESULTS:

The ImmunoSieve assay enable sensitive detection of monomeric transthyretin in plasma microsamples. Moreover, the circulating monomeric TTR levels were significantly higher in carriers of amyloidogenic TTR mutation.

CONCLUSIONS:

Monomeric TTR can function as a biomarker for evaluating disease progression and assessing responses to therapies targeted at stabilising native TTR.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Prealbúmina / Biomarcadores / Neuropatías Amiloides Familiares Límite: Female / Humans / Male Idioma: En Revista: Amyloid Asunto de la revista: BIOQUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Prealbúmina / Biomarcadores / Neuropatías Amiloides Familiares Límite: Female / Humans / Male Idioma: En Revista: Amyloid Asunto de la revista: BIOQUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido