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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

J. Sikora, T. Kmochová, D. Mušálková, M. Pohludka, P. Přikryl, H. Hartmannová, K. Hodaňová, H. Trešlová, L. Nosková, L. Mrázová, V. Stránecký, M. Lunová, M. Jirsa, E. Honsová, S. Dasari, ED. McPhail, N. Leung, M. Živná, AJ. Bleyer, I. Rychlík, R....

. 2022 ; 101 (2) : 349-359. [pub] 20210921

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22011182

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.

Citace poskytuje Crossref.org

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$a Lunová, Mariia $u Institute for Clinical and Experimental Medicine, Prague, Czech Republic
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$a Jirsa, Milan $u Institute for Clinical and Experimental Medicine, Prague, Czech Republic; Institute of Clinical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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$a Rychlík, Ivan $u Department of Medicine, Third Faculty of Medicine, Charles University in Prague and Faculty Hospital Kralovske Vinohrady, Prague, Czech Republic
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