Inflammatory Profiling of Patients with Familial Amyloid Polyneuropathy

Overview

Journal BMC Neurol

Publisher Biomed Central

Specialty Neurology

Date 2019 Jun 30

PMID 31253122

Citations 26

Authors

Estefania P Azevedo

Anderson B Guimaraes-Costa

Christianne Bandeira-Melo

Leila Chimelli

Marcia Waddington-Cruz

Elvira M Saraiva

Fernando L Palhano

Debora Foguel

Affiliations

Soon will be listed here.

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.

Citing Articles

Gene expression of Decompression Sickness-resistant rats through a miRnome/transcriptome crossed approach.

Dugrenot E, Guernec A, Orsat J, Guerrero F Commun Biol. 2024; 7(1):1245.

PMID: 39358457 PMC: 11446962. DOI: 10.1038/s42003-024-06963-3.

Effect of dynamic exclusion and the use of FAIMS, DIA and MALDI-mass spectrometry imaging with ion mobility on amyloid protein identification.

Aguilan J, Lim J, Racine-Brzostek S, Fischer J, Silvescu C, Cornett S Clin Proteomics. 2024; 21(1):47.

PMID: 38961380 PMC: 11223398. DOI: 10.1186/s12014-024-09500-w.

Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis.

Yeh S, Yeh T, Wang Y, Chao C, Tzeng S, Tang T Ann Clin Transl Neurol. 2023; 11(1):30-44.

PMID: 37902278 PMC: 10791016. DOI: 10.1002/acn3.51930.

Current Evidence Supporting the Role of Immune Response in ATTRv Amyloidosis.

Plantone D, Primiano G, Righi D, Romano A, Luigetti M, De Stefano N Cells. 2023; 12(19).

PMID: 37830598 PMC: 10572348. DOI: 10.3390/cells12192383.

Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.

Ando Y, Waddington-Cruz M, Sekijima Y, Koike H, Ueda M, Konishi H Orphanet J Rare Dis. 2023; 18(1):323.

PMID: 37828588 PMC: 10571420. DOI: 10.1186/s13023-023-02910-3.

References

Mathey E, Pollard J, Armati P . TNF alpha, IFN gamma and IL-2 mRNA expression in CIDP sural nerve biopsies. J Neurol Sci. 1999; 163(1):47-52. DOI: 10.1016/s0022-510x(99)00009-x. View

Urano F, Wang X, Bertolotti A, Zhang Y, Chung P, Harding H . Coupling of stress in the ER to activation of JNK protein kinases by transmembrane protein kinase IRE1. Science. 2000; 287(5453):664-6. DOI: 10.1126/science.287.5453.664. View

Ethuin F, Delarche C, Benslama S, Gougerot-Pocidalo M, Jacob L, Chollet-Martin S . Interleukin-12 increases interleukin 8 production and release by human polymorphonuclear neutrophils. J Leukoc Biol. 2001; 70(3):439-46. View

Sousa M, Du Yan S, Fernandes R, Guimaraes A, Stern D, Saraiva M . Familial amyloid polyneuropathy: receptor for advanced glycation end products-dependent triggering of neuronal inflammatory and apoptotic pathways. J Neurosci. 2001; 21(19):7576-86. PMC: 6762914. View

King S, Hegadoren K . Stress hormones: how do they measure up?. Biol Res Nurs. 2002; 4(2):92-103. DOI: 10.1177/1099800402238334. View

Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E . Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol. 2002; 59(11):1771-6. DOI: 10.1001/archneur.59.11.1771. View

Reixach N, Deechongkit S, Jiang X, Kelly J, Buxbaum J . Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture. Proc Natl Acad Sci U S A. 2004; 101(9):2817-22. PMC: 365703. DOI: 10.1073/pnas.0400062101. View

Singer M, Sansonetti P . IL-8 is a key chemokine regulating neutrophil recruitment in a new mouse model of Shigella-induced colitis. J Immunol. 2004; 173(6):4197-206. DOI: 10.4049/jimmunol.173.6.4197. View

Sousa M, Amaral J, Guimaraes A, Saraiva M . Up-regulation of the extracellular matrix remodeling genes, biglycan, neutrophil gelatinase-associated lipocalin, and matrix metalloproteinase-9 in familial amyloid polyneuropathy. FASEB J. 2004; 19(1):124-6. DOI: 10.1096/fj.04-2022fje. View

10.

Sekijima Y, Wiseman R, Matteson J, Hammarstrom P, Miller S, Sawkar A . The biological and chemical basis for tissue-selective amyloid disease. Cell. 2005; 121(1):73-85. DOI: 10.1016/j.cell.2005.01.018. View

11.

Eskan M, Benakanakere M, Rose B, Zhang P, Zhao J, Stathopoulou P . Interleukin-1beta modulates proinflammatory cytokine production in human epithelial cells. Infect Immun. 2008; 76(5):2080-9. PMC: 2346720. DOI: 10.1128/IAI.01428-07. View

12.

Koike H, Iijima M, Mori K, Yamamoto M, Hattori N, Watanabe H . Neuropathic pain correlates with myelinated fibre loss and cytokine profile in POEMS syndrome. J Neurol Neurosurg Psychiatry. 2008; 79(10):1171-9. DOI: 10.1136/jnnp.2007.135681. View

13.

Saporta M, Zaros C, Cruz M, Andre C, Misrahi M, Bonaiti-Pellie C . Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. Eur J Neurol. 2009; 16(3):337-41. DOI: 10.1111/j.1468-1331.2008.02429.x. View

14.

Hakkim A, Furnrohr B, Amann K, Laube B, Abu Abed U, Brinkmann V . Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis. Proc Natl Acad Sci U S A. 2010; 107(21):9813-8. PMC: 2906830. DOI: 10.1073/pnas.0909927107. View

15.

Verri Jr W, Souto F, Vieira S, Almeida S, Fukada S, Xu D . IL-33 induces neutrophil migration in rheumatoid arthritis and is a target of anti-TNF therapy. Ann Rheum Dis. 2010; 69(9):1697-703. DOI: 10.1136/ard.2009.122655. View

16.

Llado L, Baliellas C, Casasnovas C, Ferrer I, Fabregat J, Ramos E . Risk of transmission of systemic transthyretin amyloidosis after domino liver transplantation. Liver Transpl. 2010; 16(12):1386-92. DOI: 10.1002/lt.22174. View

17.

Ouyang W, Rutz S, Crellin N, Valdez P, Hymowitz S . Regulation and functions of the IL-10 family of cytokines in inflammation and disease. Annu Rev Immunol. 2010; 29:71-109. DOI: 10.1146/annurev-immunol-031210-101312. View

18.

Scheller J, Chalaris A, Schmidt-Arras D, Rose-John S . The pro- and anti-inflammatory properties of the cytokine interleukin-6. Biochim Biophys Acta. 2011; 1813(5):878-88. DOI: 10.1016/j.bbamcr.2011.01.034. View

19.

Azevedo E, Pereira H, Garratt R, Kelly J, Foguel D, Palhano F . Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in.... Biochemistry. 2011; 50(51):11070-83. DOI: 10.1021/bi201365r. View

20.

Plante-Bordeneuve V, Said G . Familial amyloid polyneuropathy. Lancet Neurol. 2011; 10(12):1086-97. DOI: 10.1016/S1474-4422(11)70246-0. View