ENG

The ENG Gene: A Vital Player in Vascular Health

Hidden within the vast expanse of the human genome lies the ENG gene, a genetic blueprint that holds the instructions for creating a protein called endoglin. This seemingly unassuming protein plays a pivotal role in the intricate process of angiogenesis, the formation of new blood vessels. But what happens when this gene malfunctions? The answer lies in understanding hereditary hemorrhagic telangiectasia (HHT), a genetic disorder that can lead to a range of vascular complications.

What is Endoglin?

Endoglin, also known as CD105, is a transmembrane glycoprotein found primarily on the surface of endothelial cells, which line the interior of blood vessels. It acts as a co-receptor for transforming growth factor beta (TGF-β), a family of proteins involved in cell growth, differentiation, and immune regulation. Endoglin helps modulate TGF-β signaling, ensuring proper blood vessel development and maintenance.

ENG Gene and Hereditary Hemorrhagic Telangiectasia (HHT)

Mutations in the ENG gene are the most common cause of HHT type 1, an inherited disorder characterized by abnormal blood vessel formation. These mutations can lead to a deficiency or dysfunction of endoglin, disrupting the delicate balance of TGF-β signaling.

Symptoms of HHT

The hallmark of HHT is the presence of arteriovenous malformations (AVMs), abnormal connections between arteries and veins that bypass the capillary network. These AVMs can occur in various organs, including the skin, nose, lungs, gastrointestinal tract, and brain. Symptoms of HHT can vary depending on the location and severity of AVMs, but may include:

• Nosebleeds (epistaxis)
• Skin telangiectasias (small, dilated blood vessels)
• Gastrointestinal bleeding
• Shortness of breath
• Neurological symptoms (headaches, seizures, stroke)

Research and Future Directions