Nat Commun: Key genes regulate neurological disorders.

September 19, 2020 /--- motor neurons control movement, breathing, swallowing and talking.
of motor neurons is a sign of the ongoing disease, such as spinal muscular dystrophy and ALS.
the key to developing precise treatments to understand the causes of motor neuron death.
, based on a study published In the September 15, 2020 issue of nature Communications, Scripps Research molecular biologist Dr Claudio Joazeiro et al. revealed the molecular mechanisms that cause neuron degeneration and related diseases.
the study points to a genetic mutation called NEMF, a new driver of motor neurone disease.
NEMF plays an important role in helping to remove functional failures called ucoseosomes.
(Photo: www.pixabay.com) Healthy NEMF helps cells recycle pieces of the wrong garbled protein.
found that several mutant forms of NEMF in mice led to disorders that in turn led to neuromuscular, neurodegenerative or other diseases.
: "The results provide strong evidence that EROs quality control dysfunction can lead to neurodegenerative lesions," said Joazeiro, director of the Journal of Technology.
" in cells, millions of ucoseomes convert genetic codes into proteins by stringing together amino acids at once.
the process occasionally occurs, some of which can lead to potentially toxic protein fragments.
this happens, protein synthesis is aborted, and then the nuclear glycosome protein volume control system in the cell shreds the miscoded protein for recovery.
the team identified nine patients from seven separate families who may have NEMF pathogenic diseases and exhibit neuromuscular disorders, as well as a variety of developmental problems, including speech, and intellectual disabilities.
jozeiro said: "It's good to see that our early data and knowledge of molecular mechanisms can help predict these findings in human patients.
hope that these advances will one day prove helpful to families affected by these difficult diseases.
added that the team is currently studying the role of icing on quality control in other related diseases.
(bioon.com) Source: New gene implicated in neuron diseases Original source: Paige B. Martin et al, NEMF mutations that ribosome-associated quality control are associated with neuromuscular disease, Nature Communications (2020). DOI: 10.1038/s41467-020-18327-6.