Researchers from the US National Institutes of Health have recently discovered a new neurological disease in children, which manifests itself in speech and motor problems.
Using state-of-the-art genomic and cellular tools, scientists identified mutations in both copies of the ATG4D gene in three children studied. However, they explain, this gene participates in the cellular maintenance process called autophagy, which regulates the degradation of damaged protein aggregates and is essential for the development and survival of neurons.
“The brain is so complex and the neurons have very specialized functions. To perform these functions, different neurons use different genes, so changes in redundant genes can have significant repercussions in the brain,” said study author May Christine Malicdan. Researchers hope to be able to develop new treatments for this disease and others involving autophagy pathways.
The discovery of this rare disease that involves mutations in a gene may thus help to better understand how this gene acts in an important cellular process such as autophagy and how the cellular recycling system contributes to brain health, or promotes dementia if this system fails.