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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F22%3A00082077" target="_blank" >RIV/00023001:_____/22:00082077 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064173:_____/22:43922213 RIV/00216208:11110/22:10431940 RIV/00064165:_____/22:10431940 RIV/00216208:11120/22:43922213

  • Result on the web

    <a href="https://reader.elsevier.com/reader/sd/pii/S008525382100867X?token=5AF252188207216E01E424AA9E1A02EDB8021C3F783E6CDDF060ED3925A3F0A7B0B8FF281F72E3E48077228CA874CE87&originRegion=eu-west-1&originCreation=20220119150721" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S008525382100867X?token=5AF252188207216E01E424AA9E1A02EDB8021C3F783E6CDDF060ED3925A3F0A7B0B8FF281F72E3E48077228CA874CE87&originRegion=eu-west-1&originCreation=20220119150721</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.kint.2021.09.007" target="_blank" >10.1016/j.kint.2021.09.007</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

  • Original language description

    Amyloid A amyloidosis is a serious clinical condition resulting from the systemic deposition of amyloid A originating from serum amyloid A proteins with the kidneys being the most commonly and earliest affected organ. Previously described amyloid A amyloidosis is linked to increased production and deposition of serum amyloid A proteins secondary to inflammatory conditions arising from infectious, metabolic, or genetic causes. Here we describe a family with primary amyloid A amyloidosis due to a chr11:18287683 T&gt;C (human genome version19) mutation in the SAA1 promoter linked to the amyloidogenic SAA1.1 haplotype. This condition leads to a doubling of the basal SAA1 promoter activity and sustained elevation of serum amyloid A levels that segregated in an autosomal dominant pattern in 12 genetically affected and in none of six genetically unaffected relatives, yielding a statistically significant logarithm of odds (LOD) score over 5. Affected individuals developed proteinuria, chronic kidney disease and systemic deposition of amyloid composed specifically of the SAA1.1 isoform. Tocilizumab (a monoclonal antibody against the interleukin-6 receptor) had a beneficial effect when prescribed early in the disease course. Idiopathic forms represent a significant and increasing proportion (15-20%) of all diagnosed cases of amyloid A amyloidosis. Thus, genetic screening of the SAA1 promoter should be pursued in individuals with amyloid A amyloidosis and no systemic inflammation, especially if there is a positive family history. © 2021 International Society of Nephrology

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30217 - Urology and nephrology

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2022

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Kidney international

  • ISSN

    0085-2538

  • e-ISSN

    1523-1755

  • Volume of the periodical

    101

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    11

  • Pages from-to

    349-359

  • UT code for WoS article

    000746612100019

  • EID of the result in the Scopus database

    2-s2.0-85118722293