A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.

doi:10.1016/j.kint.2021.09.007

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Article

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.

Kidney international - 1 Feb 2022

Sikora Jakub, Kmochová Tereza, Mušálková Dita, Pohludka Michal, Přikryl Petr, Hartmannová Hana, Hodaňová Kateřina, Trešlová Helena, Nosková Lenka, Mrázová Lenka, Stránecký Viktor, Lunová Mariia, Jirsa Milan, Honsová Eva, Dasari Surendra, McPhail Ellen D, Leung Nelson, Živná Martina, Bleyer Anthony J, Rychlík Ivan, Ryšavá Romana, Kmoch Stanislav

Abstract excerpt

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...

Topics

Amyloidosis
Humans
Mutation
Promoter Regions, Genetic
Serum Amyloid A Protein

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Identifiers

PMID: 34560138
DOI: 10.1016/j.kint.2021.09.007

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