Scientists identify role of FMN1 gene in hereditary hearing loss — Jerusalem Post
In Israel, an international group of researchers involving scientists from Tel Aviv University identified a rare variant of the FMN1 gene linked to congenital hearing loss and silvery-gray hair color in children. The results were published in the journal Proceedings of the National Academy of Sciences, the Jerusalem Post reports.
Study of a Palestinian family
The study began with an analysis of an extended Palestinian family in which four children from three groups of cousins were born with bilateral moderate hearing loss and silvery-gray hair. According to the authors, no other health problems were identified in the children.
Genomic analysis showed that all affected children had two copies of a rare FMN1 variant that resulted in the loss of the Formin-1 protein. Researchers from Bethlehem University, the University of Washington in Seattle, and Tel Aviv University took part in the project. The study's authors include Lara Kamal, Professor Moien Kanaan, Professor Mary-Claire King, and Professor Karen B. Avraham.
The scientists called this the first known case in which a human condition has been linked to a genetic defect in FMN1. Disorders in other proteins of the formin family had previously been associated with neurological, kidney, reproductive, and cardiac disorders.
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Data from experiments in mice
To determine the mechanism of hearing impairment, the team studied mice without a functional Formin-1 protein. This model was created in the early 1990s, but the animals' hearing had not previously been studied. The mice were found to have hearing loss similar to that of the children in the family.
According to the researchers' conclusions, the loss of Formin-1 disrupts microtubule architecture and the dynamic network of protein fibers that maintain cell shape and mechanical stability and participate in the transport of substances in the organ of Corti of the inner ear. Reduced auditory nerve activity and fewer of its fibers were also recorded in the mice.
Formin-1 is part of a molecular complex involved in transporting melanosomes, pigment organelles that affect hair and skin color. The researchers suggest that hearing loss and altered pigmentation may be different biological consequences of the same genetic defect. According to Professor Avraham, a change in hair color may be a clinical sign that helps doctors suspect FMN1-related hearing loss.
