According to a report by medicalexpress, recent research from a DNA sequencing study revealed new information about Tourette syndrome. Led by researchers at UC San Francisco, this study represents the largest DNA sequencing study ever conducted of Tourette syndrome. Researchers identified disruptions in cell polarity as a major cause in the development of the disorder. Specifically they discovered new information on what are known as de novo mutations. Keep reading to learn more about this new evidence, or follow the original story here for more information.
What is Tourette Syndrome?
It is unclear what causes Tourette syndrome. Some research identifies it as an inherited condition. A combination of environmental factors may also play a role. Others believe that an imbalance of certain chemicals in the brain may lead to Tourette syndrome.
In any case, Tourette syndrome is a dysfunction of the nervous system. It’s identifying feature is the involuntary movements or vocalizations affecting patients. These are commonly referred to as tics. Common tics include repetitive blinking, clearing of throat, or the unintentional blurting out of words. Estimates place Tourette syndrome at an occurrence of 100,000-300,000 in the American population.
There is no known treatment for Tourette syndrome. Some symptoms may, however, be treatable with therapies such as seizure medication, Botox injections, or Dopamine-blocking medications.
Click here to learn more about Tourette syndrome.
This End Up
Researchers in the UC Francisco (UCSF) focused primarily on what are called de novo mutations. Many genetic conditions are inherited genetically. That is to say that parents carry some form of the disease-causing gene and it is passed to their offspring. De novo mutations are new mutations that show up doing conception. Specifically, researchers identified these new cell mutations as affecting cell polarity. Polarity is the method by which cells distinguish the top of their structure from the bottom. The orientation of cells is especially important in the brain where cells need to interact with specific types of information and regions to properly function.
It is suspected that this alteration in polarity could lead to he characteristic tics present in cases of Tourette syndrome. The UCSF group already announced plans to further study the disruption in “neuronal wiring.”
Understudied, Understanding
Some studies put Tourette syndrome at an occurrence as high as one percent of all children born. Despite this number, the condition is relatively misunderstood and there is minimal research conducted on it compared to other similar disorders. Perhaps that is one of the reasons collaboration played such a alrge role in this new research. Researchers also believe that their study may have applications for other psychological conditions as well. Some of the same genes may play a part in OCD.
As a result of the UCSF study and collaboration, the National Institute of Mental Health funded a $10 million grant to assist in furthering their findings.
