Joint research by MAHE, University of Pittsburgh discovers new mutation involving zinc transport that causes rare brain disease

September 17, 2022 08:27 pm | Updated 08:27 pm IST - MANGALURU

A team of researchers led by Anju Shukla from the Kasturba Medical College, Manipal Academy of Higher Education (MAHE), Manipal and Quasar Padiath at the University of Pittsburgh have discovered a new gene mutation that causes hypomyelinating leukodystrophy which is a type of neurological disorder.

The new gene, TMEM163, encodes a protein that transports zinc, an essential dietary micronutrient, out of cells, a release from the MAHE said.

“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,” the release claimed.

For rare diseases like hypomyelinating 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 U.S. and the Netherlands identified additional families that also carried mutations in the same gene.

A series of in-depth laboratory 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 synthesis and maintenance of myelin and increasing cell death, the release said.

The release quoted the Vice-Chancellor of MAHE M.D Venkatesh: “This discovery is remarkable and has the potential to help in development of new treatments for neurological conditions. We admire the efforts of the scientists at KMC and University of Pittsburgh. This work is published in the highly reputed journal Brain, which publishes landmark papers in clinical neurology and translational neuroscience since 1878 by Oxford University Press. This research is also an important milestone in the ongoing memorandum of understanding signed between the two universities this year.”

Dr. Shukla, Professor and in-charge Head, Department of Medical Genetics, KMC and Hospital, said: “This discovery is very momentous as myelin disorders are one of the core research focuses of our team. Also, discovering a new gene responsible for causing a disease is always exciting, that feeling never gets old”.

Dr. Padiath, Associate Professor, 3135 Pitt Public Health, Department of Human Genetics Graduate School of Public Health, University of Pittsburgh, said: “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”.

Michelle Rosario and Guillermo Rodriguez Bey were the co-lead authors of the study.

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