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What Is Segmental Overgrowth?

In What Is Segmental Overgrowth?, learn about the fascinating condition that causes certain parts of the body to grow out of proportion. Meet Leah, whose arm is growing abnormally due to a mutation in the PIK3CA gene. Explore the science behind this condition, understanding how cells grow, how mutations in specific genes can affect growth, and the connection between cancer research and segmental overgrowth. This video is excerpted from BBC’s The World’s Most Extraordinary People, a documentary series revealing how rare medical conditions inspire groundbreaking scientific discoveries.

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World's Most Extraordinary People
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4:43
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Q: What is unique about Leah’s condition and how is it affecting her growth?
A: Leah’s left arm is growing disproportionately due to a mutation in the PIK3CA gene, causing her arm to grow without stopping, unlike the rest of her body.

Q: How does a mutation in a gene like PIK3CA affect cell growth?
A: A mutation in the PIK3CA gene causes cells to grow uncontrollably, as the gene does not provide the normal signal to stop growing, similar to what happens with cancer cells.

Q: How do cancer cells relate to segmental overgrowth?
A: Both cancer cells and cells in segmental overgrowth continue to divide and grow uncontrollably due to mutations, often in the same types of genes that regulate normal cell growth.

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