A groundbreaking new study has uncovered genetic factors that may help explain why some women experience a phenomenon called mosaic loss of the X chromosome (mLOX) as they age. With mLOX, some of a woman’s blood cells randomly lose one of their two X chromosomes over time. Concerningly, scientists believe this genetic oddity may lead to the development of several disease, including cancer.
Researchers with the National Institutes of Health found that certain inherited gene variants make some women more susceptible to developing mLOX in the first place. Other genetic variations they identified seem to give a selective growth advantage to the blood cells that retain one X chromosome over the other after mLOX occurs.
Importantly, the study published in the journal Nature confirmed that women with mLOX have an elevated risk of developing blood cancers like leukemia and increased susceptibility to infections like pneumonia. This underscores the potential health implications of this chromosomal abnormality.
Paper Summary
Methodology
To uncover the genetic underpinnings of mLOX, the researchers conducted a massive analysis of nearly 900,000 women’s blood samples from eight different biobanks around the world. About 12% of these women showed signs of mLOX in their blood cells.
Results
By comparing the DNA of women with and without mLOX, the team pinpointed 56 common gene variants associated with developing the condition. Many of these genes are known to influence processes like abnormal cell division and cancer susceptibility. The researchers also found that rare mutations in a gene called FBXO10 could double a woman’s risk of mLOX. This gene likely plays an important role in the cellular processes that lead to randomly losing an X chromosome.
