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They found that a deficiency of PITX2 leads to metabolic dysfunction in the affected heart cells. This metabolic disorder contributes to the risk of developing the irregular heart rhythm associated with atrial fibrillation. ‘Our results suggest that therapies aimed at improving energy production in the heart cells could be used to prevent or treat atrial fibrillation - especially in people with PITX2 deficiency,’ says Dr Laura Sommerfeld, DZHK scientist and junior author of the study from the University Center of Cardiovascular Science (UCCS) at the UKE. The results of the international study led by the UKE and the University of Birmingham (UK) have been published by the scientists in the journal Cardiovascular Research.
PITX2 is a gene that plays an important role during the embryonic development of the heart. In the study, the scientists compared healthy heart cells with laboratory-grown cells that were deficient in PITX2. In addition to differences in cell structure, function and gene expression, these PITX2-deficient heart cells showed a disturbed form of energy production. This process is associated with increased spontaneous beating rates and irregularities in the electrical activity of the affected heart cells.
Link to the original publication: PITX2 deficiency leads to atrial mitochondrial dysfunction (Reyat, Sommerfeld et al., Cardiovascular Research, 2024)
Source: press release UKE (in German only)
