Failure in the quality control system
A gene involved in motor neuron diseases has been discovered
Tatiana Matveeva, "Scientific Russia"
Failures in the NEMF gene, which ensures that ribosomes correctly build proteins in cells, can lead to degeneration of motor neurons and related diseases, according to a new study published in the journal Nature Communications (Martin et al., NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease). The press release of the New gene implicated in neuron diseases can be read on the Scripps Research Institute website.
Motor neurons control movement, breathing, swallowing, and speech. Their death is a sign of progressive diseases, such as muscular atrophy of the spine and amyotrophic lateral sclerosis, or Lou Gehrig's disease (a disease that the theoretical physicist suffered from Stephen Hawking). The causes of these diseases may be different. Including a failure in the genetic "quality control system".
Inside the cell, millions of ribosomes transform the genetic code into proteins. Sometimes mistakes happen, some of which lead to the formation of potentially toxic protein fragments. When this happens, protein production can be suspended, and the "quality control system" of the ribosomal protein of the cell will grind the distorted pieces for reuse. The healthy NEMF gene works in a "quality control system": it helps the cell to process distorted protein fragments produced by mistake.
As scientists have discovered, several mutant forms of NEMF in mice lead to neuromuscular, neurodegenerative or other diseases. The same pattern was revealed in humans.
Working with GeneMatcher, a patient tool developed at Baylor Hopkins Mendelian Genomics Center in Texas (USA), the researchers identified nine people with neuromuscular diseases, as well as various developmental problems, including speech problems, developmental delay and mental retardation. They were all from seven unrelated families. And they all had probable pathogenic variants of NEMF.
"It was amazing to see how our early and new data on mice, together with the knowledge gained about molecular mechanisms, were so predictable with respect to these discoveries in humans," the authors note. "We hope that these achievements will one day prove useful for families whose members suffer from these serious diseases."
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