The National Human Genome Research Institute (USA) has discovered a new neurological disorder in three children that causes problems with speech and motor coordination. The researchers determined that the condition is caused by a genetic mutation that affects the ability of neurons to autophagy, a process in which cells break down old or damaged proteins for reuse.
The first child developed symptoms at the age of three years and was expressed in the fact that the baby had an abnormal gait, impaired coordination of movements, and problems with establishing a gaze. With age, the boy also developed seizures and decreased reflexes, and at the age of nine, the child was diagnosed with ADHD, mild cognitive impairment, and problems with irritability and anger.
Similar symptoms were observed in two sisters who also experienced difficulty with speech, learning, motor coordination, and episodes of gazing. After reviewing the children’s medical records, the researchers found that all three patients had the same mutation in a gene called ATG4D. This mutation is known to cause problems with motor control and eye movement in Lagotto Romagnolo dogs.
Disturbances in the processes of autophagy lead to the development of Alzheimer’s disease and a decrease in life expectancy. © ppt-online
To confirm the same condition in humans, the scientists placed the mutated ATG4D genes in a petri dish and then discoveredthat affected cells cannot carry out autophagy. Interestingly, previous research has shown that normal autophagy is associated with less arterial clogging and increased lifespan. In addition, this process can be manipulated to reduce the amount of amyloid plaques that cause Alzheimer’s disease.
It is important that this mutation causes violations of cell recycling exclusively in the brain, without affecting the rest of the body. Since similar autophagy disorders are associated with Alzheimer’s and Parkinson’s diseases, the researchers hope that their work will lead to a breakthrough in the treatment of these diseases. To do this, scientists will continue to work with three sick children and will look for other patients with the same disorder.
