APR 26, 2018 12:57 PM PDT

New Gene Linked to Human Aortic Aneurysms

WRITTEN BY: Kara Marker

Using a web tool called GeneMatcher, scientists from Baylor College of Medicine studying defective copies of the ari-1 gene were matched up with scientists from the Baylor-Hopkins Center for Mendelian Genomics, who study the genetic factors linked to aortic aneurysms. Together, they identified rare variants of the human ari-1 gene in aortic aneurysm patients.

A 3D illustration of the abdominal aorta at the iliac junction. Credit: Scientific Animations

"One of the goals of our lab is to conduct genetic screens in the fruit fly to identify genes that cause neurodevelopmental and neurodegenerative disorders in people," explained corresponding author Dr. Hugo Bellen. “The gene we studied here, ari-1, is one of these genes."

Bellen and his team began by studying fruit flies genetically altered to have mutations in their version of the ari-1 gene. The result of this mutation was that ari-1-defective muscle cells’ nuclei - in addition to being misshapen - were clustered together instead of being evenly distributed throughout the cell as researchers would expect in a healthy cell.

Also observed was a connection between the proteins produced by ari-1 and another gene, parkin, which is associated with Parkinson’s disease. Researchers found that ari-1 and parkin proteins form complexes with each other, and their functions occasionally overlap.

"If Ari-1 is missing, Parkin can take over its function, but not as well as Ari-1; the fruit flies present a mild defect,” Bellen explained. “It works the other way too. When Parkin is missing, Ari-1 can compensate for its absence to some degree."

A structure called the cytoskeleton maintains the even distribution of nuclei, connected to another, smaller-scale structure called the nucleoskeleton, which exists within each nucleus. Why is even nuclei distribution important for muscle cells? Bellen and his team explain that this structure holds nuclei in place and permits them to sense changes in the cell, such as “mechanical tension changes that occur in their external environment.”

Interestingly enough, proper sensing of mechanical tensions affecting the aorta is important for preventing aneurysms. The aorta is the main artery that ferries blood from the heart to tissues all over the body, carrying oxygen and nutrients. An aortic aneurysm occurs when a weakened or bulging area develops on the wall of the aorta. This development raises the risk of rupturing, leaking blood into the body, or dissecting, splitting the layers of the artery wall and leaking blood.

The unique and rare ari-1 variants identified in the new study are linked to both cerebrovascular and aortic aneurysms. Researchers observed that patients with these variants have abnormally shaped nuclei in aortic smooth muscles, matching the finding from their fruit fly studies.

Going forward, researchers will soon tackle a potential solution: increasing ari-1 expression in patients with defective ari-1 genes to reduce the risk of aortic aneurysms.

The present study was published in the journal Developmental Cell.

Sources: American Heart Association, Baylor College of Medicine

About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
JUN 15, 2020
Cell & Molecular Biology
Revealing the Network of Neurons in the Heart
JUN 15, 2020
Revealing the Network of Neurons in the Heart
The autonomic nervous system is linked to the intrinsic cardiac nervous system (ICN), which is thought to help regulate ...
JUN 14, 2020
Chemistry & Physics
Why Are There So Few Black People in STEM?
JUN 14, 2020
Why Are There So Few Black People in STEM?
On June 10th, 2020, thousands of STEM scientists and organizations around the world went on strike to protest systemic r ...
JUN 18, 2020
Cardiology
Healthy Eating Habits Lower the Risk of Cardiovascular Disease
JUN 18, 2020
Healthy Eating Habits Lower the Risk of Cardiovascular Disease
The results are in, eat your fruits and vegetables. A truth that society has known for some time, but data now confirms ...
JUN 30, 2020
Cardiology
Investigating How Aging Affects Cardiac Health in Marmosets
JUN 30, 2020
Investigating How Aging Affects Cardiac Health in Marmosets
Age is something that scientists still struggle to understand. It seems to be built into the DNA and affects the human b ...
AUG 25, 2020
Drug Discovery & Development
Blood-Pressure Medications Lower The Risk of Depression
AUG 25, 2020
Blood-Pressure Medications Lower The Risk of Depression
Do commonly prescribed blood pressure medications increase the risk of depression? The answer is No—according to a ...
SEP 24, 2020
Cardiology
Analyzing Genetic Mutations in Pulmonary Arterial Hypertension
SEP 24, 2020
Analyzing Genetic Mutations in Pulmonary Arterial Hypertension
With the advancement of genomics and genome sequencing, it has become possible for researchers to study diseases down to ...
Loading Comments...