Important insights into the behaviour of RAD51 in Bloom Syndrome – Danish Cancer Institute

Danish Cancer Institute posted on LinkedIn:

“Hot off the press in Nature Communications!

A new study by scientists from the Danish Cancer Institute has unveiled important insights into the behaviour of RAD51, a key DNA repair protein, in Bloom Syndrome (BS).

Group leader in the Nucleolar Stress and Disease group – Dorthe Helena Larsen – explains:

‘In this study, we investigate what happens when a protein called BLM helicase is not functional, a condition known as Bloom Syndrome. BLM is known to be important for DNA repair, but what we find is that a subset of the genome, the ribosomal DNA, is highly vulnerable to the loss of BLM. When ribosomal DNA is damaged, the repair proteins RAD51 accumulate; however, due to the absence of BLM, the repair process cannot be finalised. When the cell attempts to divide, this has severe consequences, as the DNA is then broken and part of it lost from the nucleus.’

The findings from this study not only provide deeper insight into the mechanisms behind the genomic instability observed in Bloom Syndrome but also teach us about the fundamental processes leading to cancer.

‘This is important for the way we think about causes of genome instability, one of the leading mechanisms in cancer development. Our study shows that instability in the ribosomal DNA can impact the genome broadly and it will therefore be important to further understand how changes in the ribosomal DNA promote cancer development’.”

Source: Danish Cancer Institute/LinkedIn