Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary disorders of the heart. It causes thickening of the heart muscle, which may impair the heart’s function. Several hundreds of variants in more than 20 genes are known to cause HCM. Modern molecular genetic diagnostics using high-throughput sequencing increasingly detect additional, previously unknown variants as potential genetic factors underlying HCM.

To assess these variants in terms of their pathogenic effect is often challenging. A review article published in Medizinische Genetik describes the importance of novel cell and tissue models for identifying HCM-causing genetic variants and for gaining further insights into the function of heart muscle cells. It also highlights how these models, combined with genome editing, might contribute to novel therapeutic perspectives in hypertrophic cardiomyopathy.

Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy
Yigit G, Wollnik B.
Medizinische Genetik. 2021;33(3): 235-243.

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Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy

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