Scientists from the National Human Genome Research Institute and the Undiagnosed Program
Researchers believe the condition is caused bya genetic mutation that affects the ability of neurons in the brain to properly perform the cell recycling function called autophagy. With it, the internal components of the cell are delivered inside its lysosomes or vacuoles, where they are degraded. This is a natural process regulated by the cell's machinery. It dismantles unnecessary or dysfunctional components.
Biologists hope that the discovery will help not only children, but also other patients with impaired autophagy. It is observed in Alzheimer's disease.
The first subject in the studySymptoms appeared at the age of three years. He had an abnormal gait, decreased coordination, and could not always maintain eye contact. As the boy grew older, he developed seizures, decreased reflexes, and partially unintelligible speech patterns. By the age of nine and a half, the child was diagnosed with ADHD, mild cognitive impairment and oppositional defiant disorder. In this condition, the patient experiences irritability and anger, and also tends to argue with parents and other authority figures. It is worth noting that the boy has a sister who, despite early developmental problems, grew up without symptoms of the disease.
Two other children who were diagnosedneurological disorder - sister girls. One of them had abnormal arm movements, she stumbled and had an unusual, overly intense gaze as a child. As she grew older, the girl continued to have learning problems and speech difficulties. Another sister also had problems with motor control, which eventually resolved, although she also continued to have problems with articulation.
After reviewing medical records, the researchers foundanswer: all children had the ATG4D gene mutation. According to a 2015 study, it causes problems with motor control and eye movement in Lagotto Romagnolo dogs. The authors of the new experiment found that the ATG4D mutation in the skin cells of sick children did not interfere with autophagy. However, it changed the cell recycling system in the brain.
After reviewing medical records, the researchers foundanswer: all children had the ATG4D gene mutation. According to a 2015 study, it causes problems with motor control and eye movement, but only in Lagotto Romagnolo dogs.
After conducting an experiment with cells in the laboratory,scientists found that the ATG4D mutation in the skin cells of sick children did not interfere with autophagy. It causes disruption of cell recycling exclusively in the brain, without affecting the rest of the body.
Previous studies have shown that normalautophagy is associated with less artery clogging and increased lifespan. Additionally, this process can be manipulated to reduce the amount of amyloid plaques that cause Alzheimer's disease.
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Cover Photo: National Human Genome Research Institute