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HEY2 mutations in malformed hearts.

Stella Marie Reamon-Buettner¹, Juergen Borlak

¹Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai Fuchs Strasse 1, 30625 Hannover, Germany.

|December 6, 2005

Summary

Mutations in the HEY2 gene, a key factor in heart development, were identified in patients with atrioventricular septal defects. This suggests HEY2 plays a role in human ventricular septation.

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Area of Science:

Cardiovascular Biology
Developmental Biology
Human Genetics

Background:

The basic helix-loop-helix (bHLH) transcription factor Hey2 is crucial for mammalian heart development.
Its specific role in human septal defects, particularly ventricular septal defects (VSD) and atrioventricular septal defects (AVSD), remains largely unknown.
HEY2 functions as a transcriptional repressor via its bHLH domain.

Purpose of the Study:

To investigate the potential role of the HEY2 gene in the etiology of human septal defects.
To analyze the HEY2 gene sequence, specifically the bHLH domain, in patients with complex cardiac malformations.

Main Methods:

Direct sequencing of the HEY2 gene's bHLH domain was performed.
The study analyzed DNA from 52 explanted hearts of unrelated patients diagnosed with complex cardiac malformations, including VSD and AVSD.

Main Results:

Three novel nonsynonymous mutations (c.286A>G [p.Thr96Ala], c.293A>C [p.Asp98Ala], and c.299T>C [p.Leu100Ser]) were identified in the HEY2 bHLH domain.
These mutations were found in the cardiac tissues of two patients diagnosed with AVSD.
The identified mutations affect the second helix of the HEY2 protein.

Conclusions:

The findings suggest a potential involvement of HEY2 in the regulation of human ventricular septation.
The complexity of cardiac malformations in the affected patients may also result from disrupted combinatorial interactions among multiple cardiac-specific transcription factors, such as NKX2-5, TBX5, and GATA4, given the presence of mutations in these genes as well.

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