OCT 09, 2022 3:02 AM PDT

Small Trial of Down Syndrome Treatment Sees Positive Results

WRITTEN BY: Carmen Leitch

Down syndrome, also known as trisomy 21, is the most common genetic type of intellectual disability, which is usually mild to moderate in affected individuals. It occurs when a person carries an extra copy or portion of chromosome 21. Down syndrome is estimated to impact about one in 1,000 people. Researchers have now completed a very small clinical study that showed that the cognitive function of Down syndrome patients can be improved by 10 to 30 percent. The findings have been reported in Science.

Image credit: Pixabay

"The experiment is very satisfactory, even if we remain cautious," noted study co-author Nelly Pitteloud of Lausanne University Hospital.

This work was based on previous research that has indicated that gonadotropin-releasing hormone (GnRH) production in the brain is related to cognitive functions like language, learning, and memory. GnRH helps regulate testosterone and estrogen levels, and puberty can be triggered, in part by increased GnRH levels.

"We wondered if this hormone could play any role in establishing the symptoms of people with Down syndrome," noted study co-author Vincent Prevot of the INSERM institute.

The researchers found that five microRNA molecules that control GnRH production are dysfunctional in a mouse model of Down syndrome. Cognitive defects in this model, including loss of smell or olfaction, a common symptom of Down's, were connected to abnormal GnRH release. When this model was treated with a drug that can lower testosterone and delay human puberty, cognitive function and olfaction were restored.

Next, the investigators began a trial in which seven men aged 20 to 50 with Down syndrome were treated with this drug; every two hours for six months, the drug was delivered to their arms in pulses, to mimic the action of the hormone in people without Down's.

Over the course of the trial, smell, and cognition assessments were made, and MRI scans were taken. In six of seven patients, there was cognitive improvement without significant side effects. Olfaction was not improved in anyone, however. A drawing test, in which patients were asked to draw a basic, three-dimensional bed, also showed signs of improvement after the treatment.

The study authors acknowledged that the small size of the study limits our ability to draw conclusions, and noted that patients were also "pushed by their parents." A lot more research will be needed before we know whether this approach will work as a treatment for people with Down syndrome, they said.

A larger trial that will include women is planned for the coming months.

"We are not going to cure the cognitive disorders of people with Down syndrome, but the improvement seen in our results already seems fundamental enough to hope to improve their quality of life," Pitteloud said.

Sources: MedicalXpress via AFP, Science

About the Author
BS
Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
SEP 15, 2022
Cell & Molecular Biology
A Totally Synthetic Microbiome is Designed & Built
SEP 15, 2022
A Totally Synthetic Microbiome is Designed & Built
In recent years, a mountain of evidence has revealed the significance of the human gut microbiome, a community of bacter ...
OCT 07, 2022
Earth & The Environment
United Nations Genetic Diversity Target Deadline Has Passed
OCT 07, 2022
United Nations Genetic Diversity Target Deadline Has Passed
In a recent study published in Science, an international team of researchers led by Stanford University examine how habi ...
OCT 14, 2022
Drug Discovery & Development
Experimental Gene Therapy Restores Night Vision in Blind Patients
OCT 14, 2022
Experimental Gene Therapy Restores Night Vision in Blind Patients
Adults with a hereditary form of childhood-onset blindness experienced dramatic improvements in night vision within days ...
OCT 28, 2022
Coronavirus
The New GenElute™-E Viral RNA/DNA Kit
OCT 28, 2022
The New GenElute™-E Viral RNA/DNA Kit
Three Advantages: Reduction in plastic use Time savings Better results Nucleic acids play an essential role in the funct ...
NOV 04, 2022
Immunology
From Fleas to Natural Selection: The Black Plague & Modern Immunology
NOV 04, 2022
From Fleas to Natural Selection: The Black Plague & Modern Immunology
Acknowledgments of our many physiological changes since the evolution of modern humans have been studied profusely, espe ...
NOV 05, 2022
Health & Medicine
Autism Study Reveals Widespread Transcriptomic Changes in the Brain
NOV 05, 2022
Autism Study Reveals Widespread Transcriptomic Changes in the Brain
We know of some risk factors for autism spectrum disorder, and like other neuropsychiatric disorders, there is a genetic ...
Loading Comments...