A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
A mutation in the gene that manages the transportation out of cells of zinc, an essential dietary micronutrient, is responsible for the disorder, called hypomyelinating leukodystrophy. The research, jointly led by Dr. Quasar Padiath at the University of Pittsburgh and Dr. Anju Shukla at the Kasturba Medical College in India, is reported in the journal Brain.
This is the first time that a mutation in a zinc transporter gene — in this case, TMEM163 — has been definitively linked to the development of any brain disorder, and it has the potential to provide insights into the role of zinc in normal brain development, injury and disease.
“Discovering a new gene responsible for causing a disease is always exciting; that feeling never gets…
