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New Discovery on X Chromosome Loss and Its Links to Autoimmune Diseases and Cancer

TAIPEI, TAIWAN, Jul 31, 2024- A global team of researchers has found new genetic factors that make some women more likely to experience a condition where some of their cells lose one of the two X chromosomes. This condition, called mosaic loss of the X chromosome (mLOX), isn't inherited but happens during a woman's lifetime. As a result, some cells in the body end up with only one X chromosome instead of the usual two.



This study, recently published in the journal Nature, sheds light on why mLOX happens and what it means for aging, blood cell formation, and cancer risk in women.


The research was a joint effort by scientists from the University of Helsinki, Broad Institute, University of Cambridge, and the National Institutes of Health (NIH). By working together, they used genetic data from over 883,000 women from various biobank projects in Europe, America, and Asia. This included nearly 170,000 women from the FinnGen study in Finland.

The researchers found mLOX in 12% of the white blood cell samples they studied, but only a small portion—about 2% on average—of these cells were affected. This finding may show common aging patterns in white blood cells among women.


The study identified more than 50 genetic variants that increase the risk of mLOX. Many of these genes are involved in cell division, cancer risk, and autoimmune diseases.


The research also showed that women with mLOX have a higher risk of certain types of leukemia, such as myeloid and lymphoid leukemias. This could be because losing an X chromosome in some blood cells might change how new cells are made, leading to changes in blood cells as women age.


This study offers new mechanical insights that will significantly change our understanding of aging and sex differences. It also highlights the important but often overlooked interaction between inherited and acquired mutations in human health and diseases. The findings reveal the complex biological processes behind mLOX and offer a new perspective on how aging affects blood cell development and the risk of blood cancers.


These findings are important because they suggest that inherited genetic differences can make someone more likely to acquire age-related genetic changes, such as losing an X chromosome. They also show how inherited variations can influence which X chromosome copy is lost.


This groundbreaking research opens up new possibilities for understanding and potentially treating conditions linked to mLOX, ultimately benefiting women's health on a global scale.


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