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Hereditary Hypofibrinogenemia with Hepatic Storage
Fibrinogen is a 340-kDa plasma glycoprotein constituted by two sets of symmetrical trimers, each formed by the Aα, Bβ, and γ chains (respectively coded by the FGA, FGB, and FGG genes). Quantitative fibrinogen deficiencies (hypofibrinogenemia, afibrinogenemia) are rare congenital disorders characteri...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659954/ https://www.ncbi.nlm.nih.gov/pubmed/33105716 http://dx.doi.org/10.3390/ijms21217830 |
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author | Asselta, Rosanna Paraboschi, Elvezia Maria Duga, Stefano |
author_facet | Asselta, Rosanna Paraboschi, Elvezia Maria Duga, Stefano |
author_sort | Asselta, Rosanna |
collection | PubMed |
description | Fibrinogen is a 340-kDa plasma glycoprotein constituted by two sets of symmetrical trimers, each formed by the Aα, Bβ, and γ chains (respectively coded by the FGA, FGB, and FGG genes). Quantitative fibrinogen deficiencies (hypofibrinogenemia, afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. Their genetic basis is represented by mutations within the fibrinogen genes. To date, only eight mutations, all affecting a small region of the fibrinogen γ chain, have been reported to cause hereditary hypofibrinogenemia with hepatic storage (HHHS), a disorder characterized by protein aggregation in the endoplasmic reticulum, hypofibrinogenemia, and liver disease of variable severity. Here, we will briefly review the clinic characteristics of HHHS patients and the histological feature of their hepatic inclusions, and we will focus on the molecular genetic basis of this peculiar type of coagulopathy. |
format | Online Article Text |
id | pubmed-7659954 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-76599542020-11-13 Hereditary Hypofibrinogenemia with Hepatic Storage Asselta, Rosanna Paraboschi, Elvezia Maria Duga, Stefano Int J Mol Sci Review Fibrinogen is a 340-kDa plasma glycoprotein constituted by two sets of symmetrical trimers, each formed by the Aα, Bβ, and γ chains (respectively coded by the FGA, FGB, and FGG genes). Quantitative fibrinogen deficiencies (hypofibrinogenemia, afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. Their genetic basis is represented by mutations within the fibrinogen genes. To date, only eight mutations, all affecting a small region of the fibrinogen γ chain, have been reported to cause hereditary hypofibrinogenemia with hepatic storage (HHHS), a disorder characterized by protein aggregation in the endoplasmic reticulum, hypofibrinogenemia, and liver disease of variable severity. Here, we will briefly review the clinic characteristics of HHHS patients and the histological feature of their hepatic inclusions, and we will focus on the molecular genetic basis of this peculiar type of coagulopathy. MDPI 2020-10-22 /pmc/articles/PMC7659954/ /pubmed/33105716 http://dx.doi.org/10.3390/ijms21217830 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Asselta, Rosanna Paraboschi, Elvezia Maria Duga, Stefano Hereditary Hypofibrinogenemia with Hepatic Storage |
title | Hereditary Hypofibrinogenemia with Hepatic Storage |
title_full | Hereditary Hypofibrinogenemia with Hepatic Storage |
title_fullStr | Hereditary Hypofibrinogenemia with Hepatic Storage |
title_full_unstemmed | Hereditary Hypofibrinogenemia with Hepatic Storage |
title_short | Hereditary Hypofibrinogenemia with Hepatic Storage |
title_sort | hereditary hypofibrinogenemia with hepatic storage |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659954/ https://www.ncbi.nlm.nih.gov/pubmed/33105716 http://dx.doi.org/10.3390/ijms21217830 |
work_keys_str_mv | AT asseltarosanna hereditaryhypofibrinogenemiawithhepaticstorage AT paraboschielveziamaria hereditaryhypofibrinogenemiawithhepaticstorage AT dugastefano hereditaryhypofibrinogenemiawithhepaticstorage |