Somatic mutations in blood are prevalent

Acuna Hidalgo, Rocio.png

A study entitled 'Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life' led by Alexander Hoischen, theme Infectious diseases and global health was published in the American Journal of Human Genetics on 29 June. 

This work was part of the PhD project of Rocío Acuna-Hidalgo and shows that somatic mutations in blood are more prevalent than previously thought. The authors estimate that approximately two out of ten people between the age of 60 and 70 carry somatic mutations in blood that drive clonal hematopoeisis. “This is a universal phenomenon. The idea that every cell in our body is genetically identical is simply not true.” Acuña Hidalgo looked at mutations in blood-forming stem cells. Because these stem cells transmit the mutation to the blood cells they form, the amount of mutated blood increases gradually with age: “Previously, we could detect mutations if these occurred in at least 4% of the blood cells. But with our novel methods we can now identify mutations that occur in less than 0.2% of the blood cells.” This study was enabled by a collaboration with Bart Kiemeny and Sita Vermeulen, PIs of the 'Nijmegen Biomedical Study'.

 

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