Scientists at the NIH and their co-workers reported that DUX4, a toxic protein produced by the body, might just be the reason for two completely different rare genetic disorders. 🧬
This study’s findings may ultimately lead to therapies that can help individuals with rare diseases like facioscapulohumeral muscular dystrophy or arhinia, a rare facial malformation.
It has been known for some time that DUX4 damages the muscle in patients with FSHD2, but what we found is that it can actually also kill the precursors of the human nose.” Genetics & Genomics eBook Compilation of the top interviews, articles, and news in the last year. Download a free copy The research was published in the journal Science Advances. NIEHS is part of NIH.
The investigators carried out studies in cranial placode cells, the cells that contribute to the development of the body’s sensory organs such as the nose, using stem cells generated from patients with the two diseases. As placode cells formed, they started to produce the DUX4 protein, which resulted in cell death.
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