A new brain disease was discovered in three children and the researchers were hopeful that it would give them a better understanding of the most common type of brain disorder like Alzheimer's disease.
New Brain Disease Discovered in 3 Children
A new genetic disease was reported for the first time in three children. All of them share neurodevelopmental problems.
The researchers identified a gene that is primarily responsible for the rare and movement disorder. However, more studies are needed to comprehend its role in cleaning up defunct proteins in the brain, Science Alert reported.
One of the kids was taken to the doctor at age 3 due to abnormal gait, poor coordination and episodes of staring. A second child showed abnormal hand movements and staring episodes at 9 months.
Her younger sister was born premature and exhibited mild speech and gross motor delays. However, at age 3, her development improved, but she's still behind compared to other kids her age.
Although there were slight variations, the three children examined in the study exhibited similar symptoms. They possessed similar physical almond-shaped eyes, a depressed nasal bridge, and a prominent Cupid's bow in their upper lip.
It is possible that these physical characteristics are a result of a shared genetic mutation, or they may simply be a coincidence. With so few identified patients, it is difficult to say for certain.
Researchers identified mutations in both copies of ATG4D, a gene linked to the recycling of damaged or defective brain cells, in all three cases.
This cleaning process is known as autophagy, and dysfunctions in its operation have been associated with other neurological disorders in the past. When autophagy is disrupted, such as in Alzheimer's, proteins appear to clog brain cells and impede their function.
The researchers are hopeful that what they learn from the new brain disorder will help them understand more common brain disorders like Alzheimer's disease and dementia.
ATG4D Mutations and Neurodegenerative Diseases
According to PubMed Central, ATG4D is the main ATG8 delipidating enzyme in mammalian cells. It protects us against cerebellar neurodegeneration.
In 2015, ATG4D mutations were linked to neurodegenerative disease in canines and zebrafish, and in 2021, mice with the mutation exhibited neurodegenerative symptoms. This is the first time, however, that the gene has been linked to neurological disorders in humans, with researchers revealing that mutations in the ATG4D gene may also cause speech and movement disorders in children during their developmental stages.
Using human neurons, it will be necessary to further investigate how this manifests in various neurodevelopmental diseases.
The National Institutes of Health's May Christine Malicdan, a genomics researcher, concedes that they only have a bird's-eye view of many important cellular processes such as autophagy.
Neurons are dependent on autophagy and there's a chance that the function of ATG4D is irreplaceable. The contribution of ATG4D to the recycling of cellular waste in the brain is still unclear.
However, the challenges they can pose for individuals with rare diseases like the new brain disorder that's just been discovered and is yet-to-be-named present an opportunity for researchers to learn about the diverse ways the human body works and fails.
The study was published in npj Genomic Medicine.
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