Molekulární patofyziologie ribozomopatií – onemocnění s narušenou funkcí ribozomů

Czech version

Authors: O. Jahoda ¹; S. Kureková ¹; K. Hlušičková Kapraľová ¹; D. Pospíšilová ²; M. Horváthová ¹
Authors‘ workplace: Ústav biologie, LF UP, Olomouc 2 Dětská klinika LF UP a FN Olomouc ¹
Published in: Transfuze Hematol. dnes,29, 2023, No. 2, p. 106-116.
Category: Review/Educational Papers
doi: https://doi.org/10.48095/cctahd2023prolekare.cz4

Overview

Ribosomes are cellular structures responsible for protein synthesis. They are formed during a complex process called ribosome biogenesis. Congenital ribosomopathies are a heterogeneous group of diseases caused by genetic abnormalities that disrupt ribosome biogenesis and function with causative mutations affecting genes encoding for ribosomal proteins or other factors involved in ribosome biogenesis. A hallmark of congenital ribosomopathies is tissue-specific damage and an increased risk of cancer development. In addition, recent research has revealed that somatic mutations in genes for ribosomal proteins are also clinically relevant as they are involved in the process of malignant transformation. In this review article, we describe the pathophysiological effects of ribosome dysfunction at the cellular and molecular level, as well as possible mechanisms promoting oncogenesis. The article also discusses current treatment of ribosomopathies and presents new therapeutic options.

Keywords:

ribosomopathies – ribosome biogenesis – translation – Diamond-Blackfan anaemia

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Article was published in

Transfusion and Haematology Today

2023 Issue 2