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SDS & Science Snapshots (2024-01-06)

In this issue: What is a ribosome and how do Lego blocks relate to Shwachman-Diamond Syndrome?

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

Decoding Ribosomes and Exploring Ribosomopathies through the Lens of Shwachman-Diamond Syndrome

Within the complex machinery of our cells, ribosomes play a crucial role in crafting proteins – the building blocks essential for life and most of our bodily functions. In this blog post, we'll break down what ribosomes are and explore ribosomopathies, using Shwachman Diamond Syndrome (SDS), as an example of how issues with ribosomes can impact health.

The Role of Ribosomes

Ribosomes are cellular structures responsible for translating the genetic instructions encoded in our DNA into proteins. These microscopic protein factories assemble amino acids in a specific sequence to form proteins that carry out diverse tasks within our cells. Proteins are vital for cell structure, function, and regulation, making ribosomes pivotal in maintaining our overall health. (With how big of a role ribosomes play, it is not surprising that many organ systems in the body are affected if the process of protein production is disrupted!)

The creative video below explains protein synthesis and the important role ribosomes play in this process!

Understanding Ribosomopathies in the Setting of Shwachman-Diamond Syndrome

Ribosomopathies are a group of rare genetic disorders characterized by abnormalities in the structure or function of ribosomes. These disruptions can lead to errors in protein production (i.e., synthesis), resulting in either the formation of defective proteins or a shortage of functional ones. The consequences of ribosomopathies can manifest in various health issues, affecting different organs and systems in the body.

Another way to think about protein production is by comparing ribosomes to a pair of hands that use individual Legos (i.e., amino acids) to build large Lego towers (i.e., proteins). The order of amino acids, or Lego blocks, is specified by the genetic code in our DNA. In SDS, a genetic change in a patient’s DNA (i.e., a mutation) reduces the number of functional ribosomes, which in turn reduces the cells' ability to make enough protein overall. It’s like not having enough hands to meet the protein demands of the body.

In SDS, the dysfunction of ribosomes impacts the bone marrow's ability to produce healthy blood cells. This can lead to conditions like anemia, where there's a deficiency of healthy red blood cells, affecting oxygen transport, resulting in fatigue and impacting overall well-being.

The Path Forward

SDS Alliance, researchers, and physicians are actively engaged in unraveling the complexities of ribosomopathies. For example, Drs. Venturi and Montanaro described How Altered Ribosome Production Can Cause or Contribute to Human Disease in their 2020 article published in Cells, which provides an overview of other ribosomopathies such as Diamond-Blackfan anemia and Treacher Collins syndrome. Additionally, Dr. Alan Warren's laboratory has published several manuscripts, Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome (2018) and Defective ribosome assembly in Shwachman-Diamond syndrome (2011), which provide more information about the role of ribosomes in SDS.

By studying conditions like SDS and other ribosomopathies, scientists aim to understand the molecular intricacies that lead to disruptions in ribosomal function. This deeper understanding holds the key to developing targeted therapies and interventions for individuals affected by these rare disorders, offering a brighter outlook for those facing the challenges of ribosomopathies.


To learn more about the medical aspects of and science behind SDS, visit our What is SDS? and Science webpages.


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