Publication details
Detekce hereditárních amyloidóz
| Title in English | Detection of Hereditary Amyloidosis |
|---|---|
| Authors | |
| Year of publication | 2014 |
| Type | Article in Periodical |
| Magazine / Source | Klinická biochemie a metabolismus |
| MU Faculty or unit | |
| Citation | |
| Field | Oncology and hematology |
| Keywords | amyloidosis; genomics; sequencing |
| Description | 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 dia¬gnostic 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. |