Detection of Hereditary Amyloidosis
Authors:
Z. Kufová 1,2,3; S. Ševčíková 1,4; R. Hájek 1,2,3,4
Authors‘ workplace:
Babákova myelomová skupina, Ústav patologické fyziologie, Lékařská fakulta, Masarykova univerzita, Brno
1; Klinika hematoonkologie, Fakultní nemocnice Ostrava
2; Lékařská fakulta, Ostravská univerzita v Ostravě
3; Oddělení klinické hematologie, Fakultní nemocnice Brno, Brno
4
Published in:
Klin. Biochem. Metab., 22 (43), 2014, No. 2, p. 65-69
Overview
Amyloidosis is a group of heterogeneous diseases that lead to extracellular deposition of amorphous material of protein nature, which can cause changes in organs or tissues and lead to their irreversible damage or even to death. Worldwide, incidence of amyloidosis is determined to be around 10/100 000, but data from the Czech Republic are missing. A specific type of amyloidoses is hereditary amyloidosis which is occurs in 1/10 cases. It is caused by congenital pathological mutation in genes coding for precursor of amyloid fibers, in most case mutations in the transthyretin (TTR) gene. Unfortunately, incidence of hereditary amyloidosis in the Czech Republic is lower than worldwide incidence. Currently, the main aim is to improve diagnostics of amyloidosis to get complex screening of all genes cause hereditary amyloidosis using one diagnostic set. The reason of implementation is potential heredity in the family and the fact that earlier detection can affect treatment positively. This paper summarizes current knowledge about hereditary transthyretin amyloidosis, its diagnostics and current trends in research.
Key words:
amyloidosis, genomics, sequencing.
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Clinical biochemistry Nuclear medicine Nutritive therapistArticle was published in
Clinical Biochemistry and Metabolism
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