DNA mutations and the origins of organ mosaicism as we age

Описание: Many of our organs show genetic mosaicism on a quite a dramatic scale. This is most evident in blood and is the main driver of dysfunctional blood as we age. Mosaicism arises because of DNA damage which then results in mutations, these mutations are what provides a cell an advantage to grow into a clone imparting mosaicism in the organ. I will discuss what causes the DNA damage through the lense of our own work, which indicates that a metabolism produces a reactive molecule (formaldehyde) that attacks DNA causing these mutations. Failure to mitigate against this leads to premature ageing syndromes. If we know how to remove this reactive agent, it is plausible that we would limit mutations and mosaicism and hence attenuate the ageing process.

K J Patel
Professor K.J. Patel is the Director of the Weatherall Institute for Molecular Medicine and the MRC Molecular Haematology Unit at the University of Oxford, and serves as Chief Scientist for Cancer Research UK (CRUK). He trained in medicine in London and spent much of his research career at the MRC Laboratory of Molecular Biology in Cambridge, focusing on genomic instability and its role in stem cell biology, particularly blood-forming stem cells.

A key area of his research examines the damaging effects of alcohol and formaldehyde on DNA. Patel has also uncovered the role of endogenous formaldehyde, a naturally occurring compound in the body, in ageing and disease.

Previously a Professor of Molecular Medicine and Stem Cell Genomics at the University of Cambridge, Patel's research has significantly advanced the understanding of DNA repair mechanisms in cancer and genetic disorders. He is a Fellow of the Royal Society (FRS), the Academy of Medical Sciences (FMedSci), and a member of the European Molecular Biology Organisation (EMBO). His work continues to drive forward the translation of molecular discoveries into new therapies for cancer, blood diseases, and age-related disorders.

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