New gene mutation that causes a neurological disorder discovered
UDUPI: A team of researchers, led by Dr. Anju Shukla of Kasturba Medical College- Manipal, and Dr. Quasar Padiath of the University of Pittsburgh has discovered a new gene mutation that causes hypomyelinating leukodystrophy, a type of neurological disorder.
The new gene, TMEM163, encodes a protein that transports Zinc, an essential dietary micronutrient, out of cells.
"This is a significant discovery as myelin disorders are one of the core research focuses of our team. Discovering a new gene responsible for causing a disease is always exciting,” Dr. Anju Shukla Professor and Incharge Head Department of Medical Genetics Kasturba Medical College and Hospital said.
Dr.Quasar S Padiath, Associate Professor, Graduate School of Public Health, University of Pittsburgh said that finding out that a zinc transporter is really important for proper myelin development could have many clinical implications and offer new ways of treating other related neurological conditions.
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.
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. This research is an important milestone in the ongoing MoU signed between the two Universities this year. The work has been published in the Brain journal.
Michelle Rosario and Dr. Guillermo Rodriguez Bey were the co-lead authors of the study. Other authors of the study include Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S. A. Cohen, Keith A. Coffman, Maya R. Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T. Flohil, Shahyan Siddiqui, Jill A. Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I. Wolf, Quasar S Padiath and Anju Shukla, according to a statement from the Manipal Academy of Higher Education (MAHE).