Protective gene mutation could form heart therapy
Wednesday January 25th 2023
A beneficial gene mutation may one day form a treatment for cardiovascular disease, researchers have reported.
Professor Paolo Madeddu of the University of Bristol, UK, and his team looked at a naturally occurring variant of the BPIFB4 gene which is common in people who live to 100 or more.
They carried out tests in the lab on middle-aged mice and showed that implanting this gene variant by a viral vector "halted the decay of heart function". It also protected cells taken from patients who have had a heart transplant due to heart failure.
When given to elderly mice it "rewound the heart’s biological clock age by the human equivalent of more than ten years", they report.
Details were published in *Cardiovascular Research*. The authors write: "The ageing heart naturally incurs a progressive decline in function and perfusion that available treatments cannot halt. However, some exceptional individuals maintain good health until the very late stage of their life due to favourable gene-environment interaction."
Addition of the gene variant restored the functioning of capillary cells and their interaction with endothelial cells, via a protein called nucleolin, they write. "It prevented cardiac deterioration in middle-aged mice and rescued cardiac function and myocardial perfusion in older mice by improving microvasculature density and pericyte coverage."
These findings open the possibility of using BPIFB4 to "reverse the decline of heart performance in older people," they conclude.
Professor Madeddu said: “Our findings confirm the healthy mutant gene can reverse the decline of heart performance in older people. We are now interested in determining if giving the protein instead of the gene can also work."
Puca, A. et al. The longevity-associated BPIFB4 gene supports cardiac function and vascularization in aging cardiomyopathy. *Cardiovascular Research* 13 January 2023; doi: 10.1093/cvr/cvad008
Tags: Genetics | Heart Health | UK News
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