---
OA_place: repository
OA_type: green
_id: '17331'
abstract:
- lang: eng
  text: Amyloidosis are a group of diseases in which soluble proteins aggregate and
    deposit in fibrillar conformation extracellularly in tissues. The effectiveness
    of therapeutic strategies depends on the specific protein involved, being crucial
    to accurately determine its nature. Moreover, following the diagnosis, the search
    for the mutation within relatives allows the clinical advice. Here we report the
    precise diagnosis and explored the possible reasons of the structural pathogenicity
    for a renal amyloidosis related to a fibrinogen Aα-chain variant. Whole-exome
    sequencing and GATK calling pipeline were leveraged to characterize the protein
    variant present in a patient with kidney failure. Bioinformatics strategies were
    applied to suggest potential explanations of the variants aggregation. Our pipeline
    allowed the identification of a single-point variant of fibrinogen Aα-chain, which
    opened the possibility of curative transplantation. In silico structural analysis
    suggested that the pathogenicity of the variant may be attributed to a heightened
    susceptibility to yield a peptide prone to deposit as an oligomer with a β-sheet
    structure. Exploiting the comprehensive coverage of whole-genome sequencing, we
    managed to fill a vacant stage in the diagnosis of hereditary amyloidosis and
    to stimulate the advancement in biomedicine.
acknowledgement: The authors acknowledge Rosana del Cid for her help with English
  corrections, Mario Ramos for the figure editions, and Gabriela Finarelli for technical
  assistance. S.A. Rosú, N.A. Ramella, and M.A. Tricerri acknowledge support from
  Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) (Grant PIP
  11220200102381), Agencia Nacional de Promoción Científica y Tecnológica (PICT 2019-03592),
  Universidad Nacional de La Plata (UNLP) (Grants M234 and PPID M014), and Fundación
  Florencio Fiorini. The authors warmly thank M.P. for her willingness to conduct
  these studies.
article_processing_charge: No
article_type: original
author:
- first_name: Elizabeth R
  full_name: Cattaneo, Elizabeth R
  last_name: Cattaneo
- first_name: Romina A
  full_name: Gisonno, Romina A
  id: a9e08d76-6a98-11ec-8f7b-c777fe5ca519
  last_name: Gisonno
- first_name: Martín C
  full_name: Abba, Martín C
  last_name: Abba
- first_name: Marianela
  full_name: Santana, Marianela
  last_name: Santana
- first_name: Silvana A
  full_name: Rosú, Silvana A
  last_name: Rosú
- first_name: Elsa
  full_name: Nucifora, Elsa
  last_name: Nucifora
- first_name: María A
  full_name: Aguirre, María A
  last_name: Aguirre
- first_name: María C
  full_name: Giordani, María C
  last_name: Giordani
- first_name: M. Alejandra
  full_name: Tricerri, M. Alejandra
  last_name: Tricerri
- first_name: Nahuel A
  full_name: Ramella, Nahuel A
  last_name: Ramella
citation:
  ama: 'Cattaneo ER, Gisonno RA, Abba MC, et al. Hereditary amyloidosis: Insights
    into a fibrinogen A variant protein. <i>Proteins: Structure, Function and Bioinformatics</i>.
    2024;92(12):1366-1374. doi:<a href="https://doi.org/10.1002/prot.26732">10.1002/prot.26732</a>'
  apa: 'Cattaneo, E. R., Gisonno, R. A., Abba, M. C., Santana, M., Rosú, S. A., Nucifora,
    E., … Ramella, N. A. (2024). Hereditary amyloidosis: Insights into a fibrinogen
    A variant protein. <i>Proteins: Structure, Function and Bioinformatics</i>. Wiley.
    <a href="https://doi.org/10.1002/prot.26732">https://doi.org/10.1002/prot.26732</a>'
  chicago: 'Cattaneo, Elizabeth R, Romina A Gisonno, Martín C Abba, Marianela Santana,
    Silvana A Rosú, Elsa Nucifora, María A Aguirre, María C Giordani, M. Alejandra
    Tricerri, and Nahuel A Ramella. “Hereditary Amyloidosis: Insights into a Fibrinogen
    A Variant Protein.” <i>Proteins: Structure, Function and Bioinformatics</i>. Wiley,
    2024. <a href="https://doi.org/10.1002/prot.26732">https://doi.org/10.1002/prot.26732</a>.'
  ieee: 'E. R. Cattaneo <i>et al.</i>, “Hereditary amyloidosis: Insights into a fibrinogen
    A variant protein,” <i>Proteins: Structure, Function and Bioinformatics</i>, vol.
    92, no. 12. Wiley, pp. 1366–1374, 2024.'
  ista: 'Cattaneo ER, Gisonno RA, Abba MC, Santana M, Rosú SA, Nucifora E, Aguirre
    MA, Giordani MC, Tricerri MA, Ramella NA. 2024. Hereditary amyloidosis: Insights
    into a fibrinogen A variant protein. Proteins: Structure, Function and Bioinformatics.
    92(12), 1366–1374.'
  mla: 'Cattaneo, Elizabeth R., et al. “Hereditary Amyloidosis: Insights into a Fibrinogen
    A Variant Protein.” <i>Proteins: Structure, Function and Bioinformatics</i>, vol.
    92, no. 12, Wiley, 2024, pp. 1366–74, doi:<a href="https://doi.org/10.1002/prot.26732">10.1002/prot.26732</a>.'
  short: 'E.R. Cattaneo, R.A. Gisonno, M.C. Abba, M. Santana, S.A. Rosú, E. Nucifora,
    M.A. Aguirre, M.C. Giordani, M.A. Tricerri, N.A. Ramella, Proteins: Structure,
    Function and Bioinformatics 92 (2024) 1366–1374.'
das_tickbox: '1'
dataavailabilitystatement: The data that support the findings of this study are available
  on request from the corresponding author. The data are not publicly available due
  to privacy or ethical restrictions.
date_created: 2024-07-28T22:01:10Z
date_published: 2024-12-01T00:00:00Z
date_updated: 2026-10-02T09:56:43Z
day: '01'
department:
- _id: GaNo
doi: 10.1002/prot.26732
external_id:
  isi:
  - '001272128100001'
  pmid:
  - '39031927'
fulldoi: https://doi.org/10.1002/prot.26732
intvolume: '        92'
isi: 1
issue: '12'
language:
- iso: eng
main_file_link:
- open_access: '1'
  url: https://doi.org/10.22541/au.171804763.37967262/v1
month: '12'
oa: 1
oa_version: Preprint
page: 1366-1374
pmid: 1
publication: 'Proteins: Structure, Function and Bioinformatics'
publication_identifier:
  eissn:
  - 1097-0134
  issn:
  - 0887-3585
publication_status: published
publisher: Wiley
quality_controlled: '1'
researchdata_availability: upon request
scopus_import: '1'
status: public
supplementarymaterial: yes
title: 'Hereditary amyloidosis: Insights into a fibrinogen A variant protein'
type: journal_article
user_id: 317138e5-6ab7-11ef-aa6d-ffef3953e345
volume: 92
year: '2024'
...