NOV 25, 2019 7:08 AM PST

Discovery of mechanism behind Alexander disease may lead to enhanced drug development

WRITTEN BY: Nouran Amin

Researchers have long known that the cause behind Alexander disease is a genetic culprit—mainly a mutation leading to the production of a defective protein called GFAP. Alexander disease (AxD) is a rare neurological condition involving myelin destruction and is present during many stages of life: infancy, adolescence, or adulthood. Many of those diagnosed with condition pass away with the first years of diagnosis. Although, some can survive for several decades, babies born to the condition experience seizures and developmental delays.

Immunofluorescence staining of Alexander Disease iPSC-astrocytes showing cell nuclei (white), cytoplasmic GFAP filaments (magenta), and perinuclear GFAP aggregates (green; marked by yellow arrowheads). (Caption and Image Credit via UNC Healthcare)

Now, a new research study at UNC School of Medicine examined the differences in severe and milder forms of AxD for the first time. Through their studies, they discovered that the mutant form of GFAP undergoes diverse chemical modifications depending on the time of when symptoms appear, and these modifications can be manipulated by scientists using an in-vitro system taken from AxD patient cells. The research could potential provide the basis of drug discovery and development.

"We are now further investigating the enzymes responsible for the key reactions inside brain cells that lead to AxD," says research leader, Natasha Snider. "We believe our research findings may open the door to new drug development opportunities for researchers and ultimately new kinds of therapies for people with this terrible disease. But ours is the first demonstration of this phenomenon in a model cell line in the lab to help us probe how exactly GFAP accumulation affects other cellular organelles to cause disease."

Findings were published in the online journal, eLife.

AxD is consider part of a group of nervous system disorders known as the leukodystrophies which involve the destruction of myelin—a insulating fatty material that improves neuronal cell communication.

Learn more about leukodystrophies:

 

 

Source: UNC Healthcare

About the Author
BS/MS
Nouran is a scientist, educator, and life-long learner with a passion for making science more communicable. When not busy in the lab isolating blood macrophages, she enjoys writing on various STEM topics.
You May Also Like
MAR 07, 2022
Cannabis Sciences
Cannabis compound CBN supports mitochondrial function
MAR 07, 2022
Cannabis compound CBN supports mitochondrial function
Cannabinol (CBN) has been established as a neuroprotective, but a recent study reveals just how CBN protects mitochondri ...
MAR 22, 2022
Drug Discovery & Development
A Guide on How to Prolong The Duration of Action of Inhaled Drugs
MAR 22, 2022
A Guide on How to Prolong The Duration of Action of Inhaled Drugs
Inhaling drugs is an ancient practice, with some researchers arguing the practice dates back as far as 3,000 BCE. W ...
MAR 30, 2022
Drug Discovery & Development
Universal Flu Vaccine Shows Promise in Mice
MAR 30, 2022
Universal Flu Vaccine Shows Promise in Mice
Just one dose of a new vaccine candidate may protect against multiple strains of flu. The corresponding research was pub ...
APR 21, 2022
Health & Medicine
Inhibiting a Key Signaling Pathway in Immune Cells Slows Alzheimer's Progression
APR 21, 2022
Inhibiting a Key Signaling Pathway in Immune Cells Slows Alzheimer's Progression
Weill Cornell Medicine researchers recently discovered that inhibiting a key signaling pathway in brain cells can lessen ...
APR 25, 2022
Health & Medicine
Sex differences in association between cannabis use and diabetes
APR 25, 2022
Sex differences in association between cannabis use and diabetes
A preprint published in Cannabis Cannabinoid Research examined the association between cannabis use and diabetes to dete ...
MAY 11, 2022
Drug Discovery & Development
Gene Therapy Shows Promise for Neuropathic Pain
MAY 11, 2022
Gene Therapy Shows Promise for Neuropathic Pain
A gene therapy has been able to inhibit neuropathic pain with no detectable side effects in mice with spinal cord and pe ...
Loading Comments...