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    Home > Biochemistry News > Biotechnology News > New mechanisms that lead to rare brain diseases

    New mechanisms that lead to rare brain diseases

    • Last Update: 2022-10-03
    • Source: Internet
    • Author: User
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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:

    1. 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.


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