In an article that was published in Nature Genetics, scientists have confirmed that almost 14% of all cerebral palsy cases may be connected to an individual’s genes and indicate that those genes control how brain circuits are wired in early development. Cerebral palsy is a brain disorder that affects an individual’s ability to move and maintain posture and balance. It’s a motor disability that is common in childhood.
The National Institute of Neurological Disorders was the main funder behind this research. The scientists’ findings were based on the biggest genetic study of cerebral palsy that has ever been conducted. Additionally, the conclusion also shed light on the importance of understanding how genes are linked to the disorder and the role they play.
Michael Kruer, the senior author of the paper, who is also a neurogeneticist from the University of Arizona College of Medicine, stated that their research findings provided strong evidence that showed that a considerable amount of cerebral palsy cases could be traced back to rare genetic mutations. Linking these cases to gene mutations helped further identify various important genetic pathways that are involved.
The researchers hope that the article will provide persons living with cerebral palsy and their loved ones a much deeper understanding of the disorder. The article will also provide doctors with a clearer guide on how to better diagnose and treat their patients who suffer from the disorder.
In the United States, cerebral palsy affects one in every 323 children. The disorder’s signs usually present early in childhood, causing various permanent disabling problems with posture and movement which may include muscle weakness, abnormal gait and spasticity. Roughly 40% of cerebral palsy patients require some support when walking. In addition to this, some patients may also experience blindness, epileptic seizures, scoliosis, intellectual disabilities as well as speech and hearing problems.
This research was led by Sheng Chih Jin, who is assistant professor of genetics at Washington University School of Medicine and Sara A. Lewis, who is a postdoctoral researcher in Dr. Kruer’s lab.
The researchers explored the genes of 250 families from various countries for spontaneous mutations. This collaboration was made possible by the International Cerebral Palsy Genomics Consortium. These de novo mutations were found to be much higher and potentially harmful in cerebral palsy patients. This led the scientists to estimate that roughly 11.9% cerebral cases could be as a result of harmful de novo mutations. An additional 2% of cerebral palsy cases were found to be connected to weaker or recessive versions of these genes.
When the researchers delved deeper into the results, they discovered that 8 genes had at least 2 harmful de novo mutations. Four of those genes had been discovered in prior studies while the remaining four were FBX031, RHOB, ALK and DHX32. Two cases in the research exhibited the same de novo mutation in FBX031 and another 2 cases had the same de novo mutation in RHOB.
Dr. Jin says that this is not a random coincidence, which suggests that these 2 genes are highly connected to cerebral palsy. Dr. Kruer says that in the future, the researchers plan to examine these results further and how they can be used to improve cerebral palsy treatments.
It is believed that entities like 180 Life Sciences Corp. are glad when a breakthrough is made regarding diseases about which so little is known.
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