How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies

Cells

Giulia Venturi¹  Lorenzo Montanaro¹ 

[1] Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Via Massarenti 9, 40138 Bologna, Italy;

关键词: ribosome biogenesis;    rare diseases;    Diamond Blackfan anemia;    X-linked dyskeratosis congenita;    5q− syndrome;    Shwachman-Diamond syndrome;   

DOI  :  10.3390/cells9102300

来源: DOAJ

【 摘 要 】

A number of different defects in the process of ribosome production can lead to a diversified spectrum of disorders that are collectively identified as ribosomopathies. The specific factors involved may either play a role only in ribosome biogenesis or have additional extra-ribosomal functions, making it difficult to ascribe the pathogenesis of the disease specifically to an altered ribosome biogenesis, even if the latter is clearly affected. We reviewed the available literature in the field from this point of view with the aim of distinguishing, among ribosomopathies, the ones due to specific alterations in the process of ribosome production from those characterized by a multifactorial pathogenesis.

【 授权许可】

Unknown