Pathogenetic Aspects of the Ribosomopathy Shwachman–Diamond Syndrome
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 October 2021) | Viewed by 3383
Special Issue Editors
Interests: human rare diseases; bone diseases; stem cells; mouse model
Interests: cytogenetics; medical genetics; cytogenetics in oncohematology; Shwachman-Diamond Syndrome
Special Issue Information
Dear Colleagues,
Shwachman–Diamond syndrome (SDS) is a rare multi-system disorder, principally characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and bone marrow failure, with high risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The inheritance is usually autosomal recessive, and SBDS is the major causative gene. More recently, other genes have been found to be associated with the disease. SDS is a ribosomopathy, as the molecular functions of all the genes involved are linked to the ribosome maturation pathway, but the complete picture of the pathogenesis has yet to be clarified. Routine cytogenetics of the bone marrow may be crucial to achieve early identification of any possible signs of evolution to MDS or AML. Some peculiar bone marrow chromosome anomalies have been linked to a better prognosis due to somatic molecular rescue mechanisms. The treatment of patients is mainly based on a symptomatic approach, but new possible drugs focused on the pathogenesis of the disease have been proposed.
This Special Issue is dedicated to all the fields of research on the pathogenetic aspects of SDS.
Dr. Annalisa Frattini
Prof. Francesco Pasquali
Dr. Roberto Valli
Guest Editors
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Keywords
- Shwachman–Diamond Syndrome (SDS)
- ribosomopathy
- cytogenetics
- molecular mechanisms of pathogenesis
- SDS therapy
- SDS and hematology
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