The researchers have discovered genetic variations that can forecast the loss of one of a woman’s two X chromosomes as she gets older, a condition called mosaic loss of chromosome X, or mLOX. These variations may contribute to the proliferation of abnormal blood cells with only a single copy of chromosome X, potentially leading to various health issues, including cancer.
Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman’s two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants m rnrnThe study, co-led by researchers at the National Cancer Institute, found that mLOX may play a role in promoting abnormal blood cells with only a single copy of chromosome X to multiply, leading to various health conditions, including cancer. The study was published on June 12, 2024, in Nature.
For a better understanding of mLOX, researchers analyzed circulating white blood cells from nearly 900,000 women across eight biobanks, 12% of whom had the condition. The researchers identified 56 common genetic variants located near genes associated with autoimmune diseases.ases and cancer susceptibility. The development of mLOX was influenced by specific genetic factors. Furthermore, rare variations in the FBXO10 gene were linked to a twofold increase in the risk of mLOX.
Among women with mLOX, the researchers also found a series of inherited genetic variations on the X chromosome that were more commonly found on the retained X chromosome than on the lost one. These variations may eventually be used to predict which X chromosome copy is retained during mLOX occurrence. This is significant because the copy of the X chromosome containing these variations may have a growth advantage that could increase a woman’s risk for blood disorders.
Researchers also examined the link between mLOX and over 1,200 diseases, and verified previous discoveries of a connection to higher chances of developing leukemia and vulnerability to infections that lead to pneumonia.
The experts propose that upcoming studies should concentrate on understanding how mLOX interacts with different genetic variations and age-related changes, which could potentially impact the risk of disease.
