Ribosomopathies are human diseases arising from altered ribosome biogenesis and function. The first of these conditions was described over two decades ago, but since then the list has kept growing longer. Ribosome biogenesis is an extremely complex cellular process, involving the coordinated activity of hundreds of different factors (proteins and non-coding RNAs) to produce structurally and functionally competent ribosomes. Genetic alterations underpinning ribosomopathies impinge on the function of any of the factors required for ribosome biogenesis. Interestingly, all inherited ribosomopathies, which by definition arise as a consequence of germline mutations, have common features that can be collectively recapitulated as defects in highly proliferating tissues. Even more intriguingly, most of the ribosomopathies have in common an increased cancer susceptibility compared to the general population. Even though these hallmarks of ribosomopathies have been known for several years, the connection between these two apparently opposite features remains unknown.
Alterations at the somatic level of genes encoding ribosome components or ribosome biogenesis factors are nowadays well known for having an active role in the onset and/or development of multiple cancer types, which can, therefore, be considered as acquired ribosomopathies. This is very well matched with the increased cancer risk for patients affected by inherited ribosomopathies and indicates that ribosome biogenesis and function de-regulation actively contribute to malignant transformation. The cause-effect connection between genetic defects in ribosome biogenesis-actors and the hypo- or hyper-proliferative features of ribosomopathies is, for the most part, poorly understood.
With this special issue, we aim at collecting original research papers and reviews of the literature concerning the pathogenesis of inherited and acquired ribosomopathies, with a particular focus on the genetic, molecular, and cellular alterations that are at the basis of these diseases. In addition, we would like to include papers focusing on possible therapeutic approaches which may rescue the consequences of genetic defects underlying inherited and acquired ribosomopathies.
Please note that case reports that report known/new variants in previously described disease genes will not be considered unless they fulfill the criteria described in the journal scope
here. Specifically, case reports must highlight unique cases of human or animal patients that present with an unexpected/ diagnosis, treatment outcome, or clinical course and follow the CARE guidelines
here.
Ribosomopathies are human diseases arising from altered ribosome biogenesis and function. The first of these conditions was described over two decades ago, but since then the list has kept growing longer. Ribosome biogenesis is an extremely complex cellular process, involving the coordinated activity of hundreds of different factors (proteins and non-coding RNAs) to produce structurally and functionally competent ribosomes. Genetic alterations underpinning ribosomopathies impinge on the function of any of the factors required for ribosome biogenesis. Interestingly, all inherited ribosomopathies, which by definition arise as a consequence of germline mutations, have common features that can be collectively recapitulated as defects in highly proliferating tissues. Even more intriguingly, most of the ribosomopathies have in common an increased cancer susceptibility compared to the general population. Even though these hallmarks of ribosomopathies have been known for several years, the connection between these two apparently opposite features remains unknown.
Alterations at the somatic level of genes encoding ribosome components or ribosome biogenesis factors are nowadays well known for having an active role in the onset and/or development of multiple cancer types, which can, therefore, be considered as acquired ribosomopathies. This is very well matched with the increased cancer risk for patients affected by inherited ribosomopathies and indicates that ribosome biogenesis and function de-regulation actively contribute to malignant transformation. The cause-effect connection between genetic defects in ribosome biogenesis-actors and the hypo- or hyper-proliferative features of ribosomopathies is, for the most part, poorly understood.
With this special issue, we aim at collecting original research papers and reviews of the literature concerning the pathogenesis of inherited and acquired ribosomopathies, with a particular focus on the genetic, molecular, and cellular alterations that are at the basis of these diseases. In addition, we would like to include papers focusing on possible therapeutic approaches which may rescue the consequences of genetic defects underlying inherited and acquired ribosomopathies.
Please note that case reports that report known/new variants in previously described disease genes will not be considered unless they fulfill the criteria described in the journal scope
here. Specifically, case reports must highlight unique cases of human or animal patients that present with an unexpected/ diagnosis, treatment outcome, or clinical course and follow the CARE guidelines
here.
