Learn what Marfan syndrome is and the role of stem cells in discovering a new way to treat this condition.
In this article:
- What Is Marfan Syndrome?
- What Causes Marfan Syndrome?
- What Are the Symptoms of Marfan Syndrome?
- What Are the Complications of Marfan Syndrome?
- How Do Stem Cells Open an Opportunity for a Better Marfan Syndrome Treatment?
What Is Marfan Syndrome?
Marfan syndrome is an inherited health condition that primarily affects a person’s connective tissue. These tissues are the fibers that anchor and support the structures and organs of the body. This disorder commonly affects the skeleton, blood vessels, eyes, and heart.
Those who are affected with the disorder are often tall and thin, with disproportionately long toes, fingers, legs, and arms. The physical damage caused by Marfan syndrome can be mild to severe. But, if it affects the large blood vessels (like the aorta), this can be life-threatening.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a defective gene. The affected gene is responsible for enabling the body to produce a protein that aids in giving connective tissues their strength and elasticity. Usually, people with this disorder inherit the abnormal gene from a parent who has the condition.
There is a 50 percent chance of a child inheriting Marfan syndrome from an afflicted parent. But, among 25% of the people with this disorder, it was found that the abnormal gene was not inherited from either of the parents. This happens when a new mutation develops suddenly.
What Are the Symptoms of Marfan Syndrome?
Marfan syndrome symptoms vary significantly, even among members of the same family. Some may experience mild Marfan syndrome, while others may experience life-threatening signs. But, in most cases, the disorder worsens as a person ages. The following are the signs and symptoms to look out for in Marfan syndrome:
- flat feet
- an abnormally curved spine
- extreme near-sightedness
- Marfan syndrome heart murmur
- crowded teeth
- a high, arched palate
- a breastbone that bulges outward or dips inward
- inappropriately long fingers, legs, and arms
- a tall and slender build
What Are the Complications of Marfan Syndrome?
This disorder can affect almost every part of the body, which can lead to a wide range of complications, such as the following:
Cardiovascular problems
This is the most dangerous complication of Marfan syndrome as it involves the blood vessels and heart. The affected tissue can weaken the aorta and can lead to aortic dissection, aortic aneurysm, and valve malfunctions.
Eye damage
The disorder can also affect the eyes, which can impact the patient’s quality of life. The eye complications can include early-onset cataracts or glaucoma, retinal problems, and lens dislocation.
Skeletal problems
Because Marfan syndrome can also affect the spine, the patient may suffer from scoliosis. It can also interfere with the development of the ribs, which may cause the breastbone to appear sunken into the chest or protruding outward.
Are Stem Cells a Viable Marfan Syndrome Treatment?
A group of researchers in the UK found a new method that may help patients avoid the need for major surgical treatments for Marfan syndrome. They focused on treating thoracic aortic aneurysm, which many people experience caused by complications in the affected blood vessels. The only available treatment for this is an open-heart surgery that replaces the affected section of the aorta.
The researchers created blood vessel tissues in a petri dish that replicate those affected with the disorder. This allowed them to identify molecular mechanisms that can lead to cell death and extracellular matrix degeneration. They took skin samples from two people with Marfan syndrome and used the cells from the skin to create human-induced pluripotent stem cells. From these stem cells, the researchers were able to produce smooth muscle cells to replace the affected wall of the blood vessels.
With the blood vessel model, they discovered that the pathway responsible for developing thoracic aortic aneurysm is just a portion of a bigger picture. They were able to identify as well a separate pathway that may be more critical than the previously known one. They will use this study to investigate further whether each pathway that can trigger thoracic aortic aneurysm may impact the overall prognosis differently. This will help them determine how thoracic aortic aneurysm can be prevented in the future, potentially with the help of stem cells.
To learn more about stem cells, watch this video from BioInformant:
Marfan syndrome can be life-threatening. Studying stem cells as part of Marfan syndrome treatment could support new approaches to managing the disease without the need for major surgeries. The research has a long road ahead before it can reach actual application, but it brings hope to patients.
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