Inflammatory profiling of patients with familial amyloid polyneuropathy
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...
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| Format: | Article |
| Language: | English |
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BMC
2019-06-01
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| Series: | BMC Neurology |
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| Online Access: | http://link.springer.com/article/10.1186/s12883-019-1369-4 |
| _version_ | 1819080267169529856 |
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| author | Estefania P. Azevedo Anderson B. Guimaraes-Costa Christianne Bandeira-Melo Leila Chimelli Marcia Waddington-Cruz Elvira M. Saraiva Fernando L. Palhano Debora Foguel |
| author_facet | Estefania P. Azevedo Anderson B. Guimaraes-Costa Christianne Bandeira-Melo Leila Chimelli Marcia Waddington-Cruz Elvira M. Saraiva Fernando L. Palhano Debora Foguel |
| author_sort | Estefania P. Azevedo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T19:42:10Z |
| format | Article |
| id | doaj.art-a5ccb81299454e48be94330e84aa1ef4 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-21T19:42:10Z |
| publishDate | 2019-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-a5ccb81299454e48be94330e84aa1ef42022-12-21T18:52:26ZengBMCBMC Neurology1471-23772019-06-011911710.1186/s12883-019-1369-4Inflammatory profiling of patients with familial amyloid polyneuropathyEstefania P. Azevedo0Anderson B. Guimaraes-Costa1Christianne Bandeira-Melo2Leila Chimelli3Marcia Waddington-Cruz4Elvira M. Saraiva5Fernando L. Palhano6Debora Foguel7Instituto de Bioquímica Medica Leopoldo de Meis, Universidade Federal do Rio de JaneiroInstituto de Microbiologia Paulo de Goes, Universidade Federal do Rio de JaneiroInstituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de JaneiroServiço de Anatomia Patológica do Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de JaneiroServiço de Neurologia do Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de JaneiroInstituto de Microbiologia Paulo de Goes, Universidade Federal do Rio de JaneiroInstituto de Bioquímica Medica Leopoldo de Meis, Universidade Federal do Rio de JaneiroInstituto de Bioquímica Medica Leopoldo de Meis, Universidade Federal do Rio de JaneiroAbstract 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.http://link.springer.com/article/10.1186/s12883-019-1369-4AmyloidTransthyretinBiomarkersCytokinesFamilial amyloid polyneuropathy |
| spellingShingle | Estefania P. Azevedo Anderson B. Guimaraes-Costa Christianne Bandeira-Melo Leila Chimelli Marcia Waddington-Cruz Elvira M. Saraiva Fernando L. Palhano Debora Foguel Inflammatory profiling of patients with familial amyloid polyneuropathy BMC Neurology Amyloid Transthyretin Biomarkers Cytokines Familial amyloid polyneuropathy |
| title | Inflammatory profiling of patients with familial amyloid polyneuropathy |
| title_full | Inflammatory profiling of patients with familial amyloid polyneuropathy |
| title_fullStr | Inflammatory profiling of patients with familial amyloid polyneuropathy |
| title_full_unstemmed | Inflammatory profiling of patients with familial amyloid polyneuropathy |
| title_short | Inflammatory profiling of patients with familial amyloid polyneuropathy |
| title_sort | inflammatory profiling of patients with familial amyloid polyneuropathy |
| topic | Amyloid Transthyretin Biomarkers Cytokines Familial amyloid polyneuropathy |
| url | http://link.springer.com/article/10.1186/s12883-019-1369-4 |
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