Key result
DNA damage repair enzyme Ascc2 acts as a causal genetic determinant of HFpEF diastolic function.
Why the study?
HFpEF is a heterogeneous syndrome with complex genetic and environmental factors, complicating the identification of causal genetic mechanisms for diastolic dysfunction.
Answers are grounded in this paper and cite their sources.
eart failure with preserved ejection fraction (HFpEF) is an increasingly prevalent syndrome characterized by diastolic dysfunction and preserved ejection fraction, which is distinct from heart failure with reduced ejection fraction in terms of pathogenesis and effective therapeutic management. 1 HFpEF is highly heterogeneous and involves multiple genetic and environmental factors, complicating the dissection of genetic mechanisms of the disease.We used systems genetics approaches involving both mouse and human datasets to identify genetic determinants that play causal roles in diastolic function, a prominent feature of HFpEF.
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Cao et al. (2022) studied Heart failure with preserved ejection fraction (HFpEF). Ascc2 (DNA Damage Repair Enzyme) was evaluated on Diastolic function. Systems genetics approaches using mouse and human datasets identified the DNA damage repair enzyme Ascc2 as a causal genetic determinant for diastolic function in HFpEF.
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