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>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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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