Words: Oliwia Mruk
Seeing the “Zebras” Among the Horses With rare diseases, their designation suggests a scarcity in the human population. In reality, this couldn’t be more misleading. Although they affect seemingly small groups of people, according to the National Institutes of Health (NIH), there are around 10,000 rare diseases in the United States alone, with over 30 million affected people. That’s only accounting for those that have been identified and diagnosed. For many of these diseases causes remain unidentified, but the majority are thought to be caused by genetic mutations. One of the genes involved in rare disease manifestations is PIK3CA, responsible for phosphatidylinositol 3-kinase (PI3K) production, with the collective term describing
Science & Technology
this group of disorders as PIK3CA-related overgrowth syndromes (PROS). To understand the mechanism a bit better, let’s go back to the basics - cellular signaling. Signal transduction inbetween cells is facilitated by receptors activated upon a signal, passing the message further along to other receptors. Receptors and messengers downstream can be thought of as the post delivery service - passing the message along so that, ultimately, a cell will receive its long-awaited parcel and react! With the PIK3CA gene, what happens when it mutates and the product it gives is not exactly what we want it to be? Due to it’s involvement in many cellular processes, including growth and survival, it has many detrimental effects.
As CLOVES Syndrome Community describes it, CLOVES, one of the disorders belonging to the PROS group, can be explained as: • Congenital - trait you are born with • Lipomatous - concerned with soft fatty tissue, often seen in patients • Overgrowth - showcasing accelerated tissue growth • Vascular Malformations affecting the circulatory system • Epidermal Neuvs - skin lesions • Spinal/Skeletal Anomalies or Scoliosis - affecting skeleton formation This acronym showcases well just how varied the symptoms can be and how many systems the PIK3A gene regulates, be it directly or indirectly.
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