AUG 06, 2020 7:35 AM PDT

Fragile X Model Has a Very Specific Brain Abnormality

WRITTEN BY: Carmen Leitch

Cilia are like little antennae on cells. Most types of cells in the body have what's called a primary cilium. While they remained underappreciated for many years, they have emerged as an important signaling mediator in many biological pathways, and ciliary dysfunction can cause serious diseases in people. Those diseases have collectively been termed the ciliopathies. (Full disclosure: a lot of research I've been a part of has involved ciliopathies.) Researchers may have now added a new disorder to this group.

The image shows primary cilia (in pink) on neurons / Credit: UT Health San Antonio Laboratory of Hye Young Lee, PhD

Work published in Stem Cell Reports has shown that in a mouse model of Fragile X syndrome, there is a reduced number of cilia on cells in a specific part of the brain.

Fragile X is a disease caused by a mutation in a gene called FMR1, which makes a protein that is critical to brain development. When mutated, the brain does not develop correctly. It impacts boys and girls, usually affecting boys more severely, and causes developmental delays, intellectual disability, anxiety, and hyperactivity. It's (currently) the most common genetic cause of autism spectrum disorder.

This study showed that there are fewer cilia in the dentate gyrus, one of two parts of the brain where neuronal stem cells reside. It's a kind of incubator for newborn neurons, which need primary cilia to fully mature.

This is the first time that cilia have been connected to Fragile X. If researchers can find a way to increase the number of cilia in the dentate gyrus, it could offer a way to treat the disorder, suggested study senior author Hye Young Lee, Ph.D., of the University of Texas Health San Antonio.

"If we get to know how the primary cilia work in the newborn neuron and how they contribute to Fragile X syndrome, the next step would be to promote them," Dr. Lee said.

"There are drugs to do that, and they could be potential therapies for Fragile X syndrome and other neurodevelopmental disorders, because there are multiple studies showing that neurodevelopmental disorders and autism can be reversed in adults," added Dr. Lee.

Sources: AAAS/Eurekalert! via University of Texas Health Science Center at San Antonio, Stem Cell Reports

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
JUL 28, 2020
Immunology
Immune-Brain Connection in Rare Disease Puzzles Scientists
JUL 28, 2020
Immune-Brain Connection in Rare Disease Puzzles Scientists
Huntington’s disease (HD) is a rare, inherited, and incurable condition associated with the progressive degenerati ...
AUG 22, 2020
Cardiology
Can Playing Your Favorite Music Improve Your Physical Performance?
AUG 22, 2020
Can Playing Your Favorite Music Improve Your Physical Performance?
If you go to the gym, you will usually see people with headphones jamming out to their favorite music while exercising. ...
AUG 20, 2020
Cardiology
Cilia are Found to Have Vesicles That May Influence Heart Disease
AUG 20, 2020
Cilia are Found to Have Vesicles That May Influence Heart Disease
Cells have many specialized organelles, including a kind of signaling hub called a cilium, which sticks out of the surfa ...
AUG 05, 2020
Neuroscience
Mitochondrial Enzyme Used to Measure Brain Power Supply
AUG 05, 2020
Mitochondrial Enzyme Used to Measure Brain Power Supply
A new study from University College London (UCL) confirms that the brain steadily uses 20% of the body’s metabolic ...
SEP 09, 2020
Cell & Molecular Biology
Why Liver Gene Therapies Have Not Worked & How to Improve Them
SEP 09, 2020
Why Liver Gene Therapies Have Not Worked & How to Improve Them
Diseases that are caused by errors in a gene might be cured if we could correct those errors, or genetic mutations.
SEP 14, 2020
Microbiology
The Immune System Can Kill HIV with a Helper Molecule
SEP 14, 2020
The Immune System Can Kill HIV with a Helper Molecule
HIV attacks the human immune system's CD4 cells, a major player in the body's defense against pathogens.
Loading Comments...