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The gene responsible for transporting zinc, an essential dietary micronutrient, out of cells has mutated, leading to a disease
This is the first time that mutations in the zinc transporter gene (in this case, TMEM163) have been explicitly linked to the development of any brain disease, and it has the potential to provide insights into
"It's always exciting to discover new genes that cause disease; This feeling will never go out of style," said
Hypomyelin leukodystrophy is a rare, often fatal, neurological disorder caused
Although genes have been linked to leukodystrophy, the genetic basis for most cases remains unclear
By combing through patients' genomes, Padiath looks for mutations and analyzes the effects
For rare diseases, such as low spinal sheath leukodystrophy, such cases can only be detected using a network of scientific and clinical collaborators from around the
A series of in-depth laboratory studies have shown that mutations in TMEM163 weaken the transporter's ability to efficiently transfer zinc from within cells, leading to a reduction in the production of proteins responsible for myelin synthesis and maintenance, and increased cell death
"Understanding how genes cause rare diseases is the first step in finding a cure," Padiath said
Journal Reference:
Michelle C do Rosario, Guillermo Rodriguez Bey, 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 Saleem Padiath, Anju Shukla.