British scientists have announced new discoveries about the development of Fanconi anaemia.
Dr Ana Cvejic of the Wellcome Trust's MRC Cambridge Stem Cell Institute, Cambridge University, UK, and her team used zebrafish to carry out tests that replicated aspects of Fanconi anaemia.
In particular, they examined the action of a gene called RAD51, mutations of which have recently been linked to Fanconi anaemia.
The loss of function of this gene in zebrafish led to the development of "key features" of Fanconi anaemia, the team reported in yesterday's (16 May) Proceedings of the National Academy of Sciences.
The features caused by loss of RAD51 included a reduction in kidney marrow cells, sensitivity to crosslinking agents - which block DNA replication - and decreased body size.
They write: 'We show that some of these symptoms stem from both decreased proliferation and increased apoptosis of embryonic haematopoietic stem and progenitor cells.'
It appeared that "co-mutation" of the protein p53 reversed these haematopoietic defects, but triggered tumour development. Prolonged inflammatory stress was seen to exacerbate the haematological impairment.
'These findings strengthen the assignment of RAD51 as a Fanconi gene and provide more evidence for the notion that aberrant p53 signalling during embryogenesis leads to the haematological defects seen later in life in Fanconi anaemia,' they write.
Dr Cvejic commented: 'Our results show that changes in RAD51 drive dysfunction of blood stem cells during embryonic development which leads on to the typical bone marrow failure seen in children with Fanconi anaemia.
'We are confident that further research using our model will increase understanding of Fanconi anaemia, and will have significant impacts on the development of new therapeutics for people living with this disease.'
Source: Botthof, J. G. et al. Loss of the homologous recombination gene rad51 leads to Fanconi anemia-like symptoms in zebrafish. Proceedings of the National Academy of Sciences 16 May 2017 doi: 10.1101/095646
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