The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine.
HLHS is a rare congenital heart disease where the left side of the heart is poorly developed, resulting in an inability to effectively pump blood to the rest of the body…Though genetic risk factors are known to play a role in HLHS, specific genes have been hard to identify.
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Cecilia Lo, professor at Pitt’s School of Medicine, and her team used fetal ultrasound imaging to screen mice with experimentally induced mutations, looking for structural heart defects…By comparing the genome of mice with the HLHS heart defects to the genome of normal mice, Lo and her team identified several hundred mutations in the HLHS mutant strains.
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Using CRISPR-Cas9 gene editing in mice, the researchers confirmed that mutations in these two genes can cause HLHS.
These findings suggest HLHS may be associated with a fundamental cellular defect in the heart muscle that can compromise blood flow in patients. This has important therapeutic implications, as surgical repair will not be able to address the cellular muscle defect in HLHS patients, noted Lo.
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