Fewer Primary Cilia Found in Fragile X Syndrome


People with genetic diseases or disorders may experience differences on a physiological level. For example, shares Medical XPress, fragile X syndrome (FXS) results in less primary cilia. Since primary cilia help detect signals and gather information, this could be the reason why FXS results in issues with neurodevelopment. While researchers still need to determine if this is true for human patients with FXS, they did find this discovery in mice models of the disorder. Interested in learning more? Read their full findings in Stem Cell Reports.

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is an inherited developmental disability. Caused by FMR1 gene mutations, FXS results in learning and cognitive disabilities. Males are generally more affected than females.

While the first symptom is missing developmental milestones, other symptoms may include:

  • Stuttering
  • Anxiety or depression
  • Hyperactivity
  • Learning disabilities
  • Aggression
  • Autism spectrum disorders
  • Coordination problems
  • Language problems

Read more about FXS here.

Primary Cilia

Before I explain the research, I want to first clear up one question: what exactly are primary cilia? These small organelles are found on many cells throughout your body. As explained in ScienceDirect, these microtubules:

dynamically extend from cells to receive and process molecular and mechanical signaling cues.

Since primary cilia are sensory in that they also help gather information about the environment AND play a role in cell function. Defects in the cilia cause a variety of health issues.

Previously, primary cilia were never linked to fragile X syndrome. However, researchers wanted to understand why mice models of FXS had less primary cilia and why this affected them. Through their research, they found that the dentate gyrus had less primary cilia. This part of the brain plays a role in learning, memory, and maturation. As it contains neuronal stem cells, it also promotes healthy infant development.

Admittedly, researchers will now need to see if these findings are replicated in human patients. If they are, this marks a stepping stone for potential research and therapies moving forward.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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