Researchers at Columbia University, University of Melbourne and the Barrow Neurological Institute recently collaborated to exome sequence (a technique to sequence all the protein-coding genes in a genome) DNA from hypothalamic hamartoma tissue and blood. Preliminary results on 30 cases show a somatic mutation (present in brain tissue but not in blood) in over 40% of HH cases in a variety of genes that encode proteins involved in the hedgehog signalling pathway.
Something potentially went awry in the development of genes along this critical pathway that is required for proper embryonic development that led to the hypothalamic hamartoma.
Significance of this Finding:
The cause of hypothalamic hamartomas is unknown. This key new finding gives researchers critical information about potential causes of HH. It is hoped that such discoveries will lead researchers to answers about how to prevent, manage, and ultimately cure HH.