The new gene, TMEM163, encodes a protein that transports Zinc, an essential dietary micronutrient, out of cells. This is the first time that a mutation in a zinc transporter gene has been definitively linked to the development of any brain disorder and has the potential to provide insights into the role of zinc in normal brain development, injury and disease.
For rare diseases like hypomyelination leukodystrophies, finding such cases was only possible by tapping a network of scientific and clinical collaborators from all over the world. In this study, the first patient sample came from Dr Shukla in Manipal. Enquiries to other groups in the US and the Netherlands identified additional families that also carried mutations in the same gene.
A series of in-depth lab studies showed that the TMEM163 mutations impair the transporter’s ability to effectively shunt zinc from inside the cell, causing reduced production of proteins responsible for the synthesis and maintenance of myelin and increasing cell death.
Speaking about the efforts of the researchers Lt. Gen. (Dr) M.D Venkatesh, Vice Chancellor of Manipal Academy of Higher Education said “This discovery is remarkable and has the potential to help in the development of new treatments for neurological conditions. We admire the efforts of the scientists at KMC and the University of Pittsburgh. This work is published in the highly reputed journal Brain, which publishes in landmark papers in clinical neurology and translational neuroscience since 1878 by Oxford University Press. This research is also an important milestone in the ongoing MoU signed between the two Universities this year”