Genetic Discovery Offers New Hope for Treating Cardiac Aging

In a new study published in the journal Signal Transduction and Targeted Therapy, researchers have made a genetic discovery that could open new avenues for treating cardiac aging, particularly in patients with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare condition that causes accelerated aging in children.

Understanding Progeria and Its Effects

Progeria is caused by a mutation in the LMNA gene, leading to the production of a harmful protein called progerin. This protein disrupts normal cell function, especially in the heart and blood vessels. Most children with the condition die in their teenage years due to cardiac complications, with rare exceptions like Sam Berns, who lived to age 28.

Progerin damages cells by destabilizing their nuclei, accelerating the aging process, particularly in the cardiovascular system.

Current Treatments and New Trials

Currently, the only FDA-approved drug is lonafarnib, which reduces the accumulation of progerin. Researchers are now testing a combination of lonafarnib with another experimental drug called progerinin to see if they work better together.

Testing Longevity Genes from Centenarians

To identify new treatments, Dr. Yan Kyu and Professor Paolo Madeddu collaborated with Professor Anibale Puca’s team in Italy to test genes extracted from centenarians. The scientists focused on a specific gene, LAV-BPIFB4, which previous research has shown supports healthy cardiovascular function during aging.

In a study on genetically modified mice that develop progeria, researchers observed early cardiac problems similar to those seen in children with the disease. After a single injection of the LAV-BPIFB4 gene, the mice showed improved heart function, particularly in heart relaxation and blood filling processes.

Promising Results and Future Directions

Experiments on human cells taken from progeria patients showed that introducing the LAV-BPIFB4 gene reduces cellular aging and fibrosis without directly altering progerin levels, suggesting that the gene helps cells withstand the toxic effects of progerin rather than eliminating it.

Dr. Yan Kyu stated, “Our findings offer new hope for a novel treatment for progeria, based on the natural biology of healthy aging rather than attempting to stop the faulty protein.”

Conclusion

This study represents a significant step toward developing new treatments for progeria and heart diseases related to aging. By leveraging centenarian genes, we can offer new solutions to address diseases that cause premature aging. As research continues, we may be able to provide new biological therapies based on genes or proteins to protect the heart from aging-related damage. These discoveries offer new hope not only for progeria patients but also for individuals seeking to live longer, healthier lives.