Envision a world where the body’s healing process overshoots its target, resulting in conditions that not only produce visible scars but also force our fingers to curl into the palm, remaining locked in that position. This scenario is not from a science fiction story; it’s the reality for people living with keloids and Dupuytren’s disease. Keloids are thick, raised scars that grow over wounds, while Dupuytren’s disease results in the fingers bending into the palm due to thick scar tissue, presenting unique challenges to many. Both conditions result from the body’s healing process going into overdrive, leading to excessive scarring that doesn’t know when to stop. Despite how common they are and the significant impact they have on people’s lives, effective treatments have been elusive, often resorting to surgery which doesn’t always prevent the condition from returning. Against this backdrop, scientists have been exploring the genetic roots of these conditions, hoping to discover new ways to treat them at their source rather than merely addressing the symptoms.
Under the leadership of Dr. Elias Volkmer at Ludwig Maximillians University in Munich, Germany, a distinguished team including Marcus Stocks, Annika S. Walter, Elif Akova, Professors Wolfgang Boecker, Attila Aszodi, Gerd Gauglitz, and Dr. Maximilian Saller, has made pioneering advances in decoding the genetic foundations of keloids and Dupuytren’s disease. Their research, detailed in the Heliyon journal, uses advanced gene sequencing to reveal the distinct genetic patterns that define these two fibrotic conditions.
Although keloids and Dupuytren’s disease might seem similar at first glance, the study shows that they follow completely different genetic paths. This key discovery points out that each condition has its own genetic signature, laying the groundwork for new treatment strategies that go beyond conventional surgical methods.
Elias Volkmer shed light on their discoveries: “We carefully extracted high-quality genetic material from all tissue samples and found a significant number of genes that behaved differently, which was statistically significant. Surprisingly, despite their similar appearance and effects, we found no overlap in the genetic makeup between the two conditions, revealing that they have entirely different genetic profiles.”
The team began their work by gathering tissue samples from individuals with either condition, ensuring all ethical guidelines were followed and that participants gave their informed consent. They then utilized a cutting-edge gene sequencing technique to thoroughly examine the activity of genes across the entire genome. This approach allowed them to pinpoint specific genes that were more or less active in keloids compared to Dupuytren’s disease, illuminating the unique biological processes and pathways at play in each condition.
Reflecting on their approach, Volkmer explained, “After organizing the genetic data, we aligned it against a human reference to figure out the activity levels for a vast number of genes. We then normalized the gene activity levels and simplified the data to better understand the genetic landscape.”
This pioneering study not only deepens our understanding of the genetic factors driving these conditions but also opens the door to developing personalized treatments that address the specific genetic abnormalities in each disorder. The potential benefits of these findings are immense, offering new hope to those affected by these often debilitating conditions. Volkmer emphasized the significance of their work: “Our analysis highlights distinct molecular changes in each condition. Remarkably, we found no shared genetic activity profiles between them. Our study points to critical biological processes and signaling pathways that could play key roles in their development and progression.”
JOURNAL REFERENCE
Marcus Stocks, Annika S. Walter, Elif Akova, Professor Wolfgang Boecker, Professor Attila Aszodi, Professor Gerd Gauglitz, Dr. Maximilian Saller, Dr. Elias Volkmer, “RNA-seq unravels distinct expression profiles of keloids and Dupuytren’s disease”, Heliyon, 2024. DOI: https://doi.org/10.1016/j.heliyon.2023.e23681.
ABOUT THE AUTHOR
Dr. Volkmer is a distinguished medical professional with an illustrious educational background that began in his hometown of Munich. His academic journey at the Ludwig Maximilian University (LMU) of Munich was marked by exceptional achievements, culminating in the receipt of a prestigious stipend that facilitated his studies at Harvard Medical School in Boston. Dr. Volkmer’s passion for research was ignited during an eight-month tenure at the Mayo Clinic in Rochester, Minnesota. There, he conducted pivotal experiments for his doctoral thesis within the esteemed Larry Karnitz Research Lab, laying the foundation for his future in medical research.
Following this formative experience, Dr. Volkmer adeptly balanced his research endeavors with clinical responsibilities. His clinical focus on hand surgery has led him to become one of the most renowned specialists in this field within Munich and Southern Germany. Dr. Volkmer’s commitment to advancing medical knowledge and practice is further evidenced by his recent completion of the rigorous process for Professorship at the LMU. His career is a testament to his dedication to both the research and clinical aspects of medicine, underscoring his significant contributions to the medical community.
