Researchers from the Murdoch Children’s Research Institute (MCRI) have recently discovered a previously unknown and uncharted neurodegenerative disorder. This rare disorder, which has not yet been named, affects children. It causes severe epilepsy and developmental regression. You can learn more about this in the findings, published by the American Journal of Human Genetics.
Understanding the genetic variance that leads to this disorder is crucial in establishing effective and targeted treatments in the future.
What are Neurodegenerative Disorders?
Neurodegenerative disorders are disorders or conditions in which the human brain and nervous system experience cell death. As a result, those with neurodegenerative disorders experience issues with motor function. Symptoms of a neurodegenerative disorder include impaired coordination, a change in behavior, or difficulty with balance.
According to the National Institute of Environmental Health Sciences (NIEHS), common types of neurodegenerative disorders include:
- Parkinson’s disease
- Alzheimer’s disease
- Huntington’s disease
- Amyotrophic lateral sclerosis (ALS)
The MCRI ran the study alongside Associate Professor Sue White. The researchers followed six children with a degenerative condition that included developmental delays followed by severe seizures.
Additionally, the research found that all children regressed developmentally after the seizures began. The epilepsy, on average, started within a year of birth. Each child also had delayed myelination.
What is myelination?
Myelination is a process in which myelin forms around brain neurons. Myelin is made of lipids and proteins. It coats axons, which help nerve cells transmit information throughout the body. Myelination begins when a fetus is developing, but lasts through adulthood. Read more about myelination here.
According to Professor White:
“The myelination process is vitally important to healthy central nervous system functioning, enabling nerve cells to transmit information faster.”
If myelin is damaged during myelination, it can lead to cognitive dysfunction, pain, or a miscommunication between bodily nerve signals and what the brain is understanding. This can ultimately lead to neurodegenerative disorders or nerve disorders.
Testing and discovery
All children were subject to genomic testing to uncover the cause of their neurodegenerative disorder. A mutation in the NRROS gene was discovered.
The disorder has features that reflect neuroinflammation. However, it is distinctly different from disorders like Alzheimer’s or frontotemporal dementia. Patients with this new neurodegenerative disorder had two copies of the defective NRROS gene. This means that both parents must be a carrier of the genetic mutation for children to inherit this disorder.
The variation of the NRROS gene causes these severe symptoms because the NRROS gene typically interacts with molecules that improve brain function. This also includes the creation of immune cells.
Looking Towards the Future
This study has immense implications for the future of epidemiology and genetic research. Genomics is a study of all of your genes and what makes you who you are. Through research such as this, which focuses on variations or mutations in genes, researchers are better able to uncover how to treat rare disorders. This will, hopefully, improve patient outcomes.
Additionally, genomic testing can help patients get answers faster, rather than waiting years for a diagnosis. Discovering a new neurodegenerative disorder is a great step in the right direction towards more effectively addressing similar disorders in the future.