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Cited by 66Amyloidosis: Diagnosis, Treatment, OutcomesPrion Diseases and Protein MisfoldingAlzheimer's disease research and treatments

Inflammatory profiling of patients with familial amyloid polyneuropathy

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Azevedo, Estefania P., Guimaraes-Costa, Anderson B., Bandeira-Melo, Christianne, Chimelli, Leila, Waddington-Cruz, Marcia, Saraiva, Elvira M., Palhano, Fernando L., Foguel, Debora·2019·BMC Neurology
DOI 10.1186/s12883-019-1369-4PMC PMC6599258
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Abstract

BACKGROUND: Familial amyloid polyneuropathy (FAP) or ATTRv (amyloid TTR variant) amyloidosis is a fatal hereditary disease characterized by the deposition of amyloid fibrils composed of transthyretin (TTR). The current diagnosis of ATTRv relies on genetic identification of TTR mutations and on Congo Red-positive amyloid deposits, which are absent in most ATTRv patients that are asymptomatic or early symptomatic, supporting the need for novel biomarkers to identify patients in earlier disease phases allowing disease control. METHODS: In an effort to search for new markers for ATTRv, our group searched for nine inflammation markers in ATTRv serum from a cohort of 28 Brazilian ATTRv patients. RESULTS: We found that the levels of six markers were increased (TNF-α, IL-1β, IL-8, IL-33, IFN-β and IL-10), one had decreased levels (IL-12) and two of them were unchanged (IL-6 and cortisol). Interestingly, asymptomatic patients already presented high levels of IL-33, IL-1β and IL-10, suggesting that inflammation may take place before fibril deposition. CONCLUSIONS: Our findings shed light on a new, previously unidentified aspect of ATTRv, which might help define new criteria for disease management, as well as provide additional understanding of ATTRv aggressiveness.

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  • Asymptomatic FAP patients already exhibit elevated levels of the anti-inflammatory cytokines IL-33 and IL-10, suggesting that an anti-inflammatory response may precede fibril deposition.

    “Interestingly, asymptomatic FAP patients already exhibit elevated levels of the anti-inflammatory cytokines IL-33 and IL-10, suggesting that an anti-inflammatory response may precede fibril deposition72.”

    From Oligomeric cystatin C supports the immunosuppressive activity of myeloid cells through interaction with inhibitory receptors (2025) · cites this paper as [72]

    The Results section on asymptomatic patients reports significantly elevated IL-33 and IL-10 and suggests that immune changes might precede amyloid deposition. However, the Results section comparing patients with healthy subjects describes IL-33 as associated with promoting inflammation; it identifies IL-10, not IL-33, as anti-inflammatory. The claimed early anti-inflammatory response therefore overstates what these findings show. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

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Authors
Azevedo, E. P., Guimaraes-Costa, A. B., Bandeira-Melo, C., Chimelli, L., Waddington-Cruz, M., Saraiva, E. M., Palhano, F. L., & Foguel, D.
Affiliations
Universidade Federal do Rio de Janeiro (BR)
ORCID
Venue
BMC Neurology
Publisher
Springer Science and Business Media LLC
Published
2019-06-28
Volume
19
Issue
1
Pages
146-146
ISSN
1471-2377 (ISSN-L)
DOI
10.1186/s12883-019-1369-4
PMC
PMC6599258
OpenAlex
W2954063256
Cited by
66
References
1
Citations by year
2026: 5 · 2025: 9 · 2024: 5 · 2023: 8 · 2022: 20 · 2021: 9 · 2020: 10
FWCI
3.23
Type
journal article
Language
en
Open access
Licence
Locations
  • BMC Neurology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders
  • Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
  • Conselho Nacional de Desenvolvimento Científico e Tecnológico
  • Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords
hereditary transthyretin amyloidosis, transthyretin amyloidosis, inflammatory markers, serum cytokines, IL-33, IL-1β, IL-10, TNF-α, interleukin-8, interferon-beta, IL-12, interleukin-6, cortisol, asymptomatic patients, early disease detection, amyloid fibril deposition
MeSH terms
Brazil, Female, Humans, Inflammation, Male, Middle Aged, Cohort Studies, Biomarkers, Amyloid Neuropathies, Familial

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