NIH study found toxic protein linked to muscular dystrophy and arhinia

Shaw’s team found that the combination of the mutated SMCHD1 gene and an environmental modifier such as a virus, may trigger the DUX4 toxic protein. This may be what causes arhinia to occur. Using stem cells created from patients with the two diseases, the researchers conducted studies in cranial placode cells, the cells that lead to the development of the body’s sensory organs, such as the nose. As the placode cells started to form, they began to produce the DUX4 protein which caused cell death.

The researchers showed that DUX4 is responsible for cell death in placode cells as it is in muscle cells, but they still do not understand why the nose cells do not die in muscular dystrophy or why the muscle cells are not dying in arhinia.

“Now what we have to do is try to figure out the players acting downstream of DUX4, so we can block it from damaging the muscle cells or the nose precursors and hopefully find some new treatment options for patients suffering from these rare diseases,” said Shaw.

Reference:

Kaoru Inoue, Hamed Bostan, MaKenna R. Browne, Owen F. Bevis, Carl D. Bortner, Steven A. Moore, Aaron A. Stence, Negin P. Martin, Shih-Heng Chen, Adam B. Burkholder, Jian-Liang Li, and Natalie D. Shaw. DUX4 double whammy: the transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. Science Advances. DOI: 10.1126/sciadv.abq7744