The postman rings the doorbell at 9am. When you finally feel brave enough, you open the NHS envelope and discover that you have a genetic condition that you have never heard of before.
Countless internet searches and a Doctor’s appointment later, you are now familiar with Kindler syndrome, a painful condition whose symptoms include thin, fragile and blistered skin that easily tears and bleeds, and a predisposition to skin cancer. You find out that, while skin blisters tend to improve with age, fragile skin is one of the most persistent symptoms – unfortunately, this becomes progressively worse as patients grow older.
Later, you are reading a scientific article that explains the origin of Kindler syndrome. Patients inherit a faulty gene from their parents, which stops the production of an important protein named Kindlin-1. As a result, Kindler syndrome patients are born lacking Kindlin-1, giving rise to the painful symptoms that accompany the disease.
You keep searching online for treatment options, only to find that there are none. All that patients can do is manage their symptoms on a daily basis. The disease currently has no cure.
You suddenly come across something that makes you smile. Scientists at the University of Edinburgh are trying to uncover the molecular origin of this disease’s symptoms, which will contribute towards finding a cure. I am one of those scientists.
The aim of my PhD is to discover the cause of the fragile skin, one of the most painful and persistent symptoms of Kindler syndrome.
Researchers have been trying to get to the bottom of this for nearly a decade. They have identified that Kindlin-1 facilitates the attachment between cells and a molecular scaffold that supports their structure. In Kindler syndrome, the cell-scaffold bond is weakened and many skin cells are unable to survive, resulting in thin, fragile skin.
However, our study shows that there is another explanation for this symptom. After staring at hundreds of skin cells under a microscope (over multiple cups of coffee), we have discovered that Kindlin-1 is also important for cell division, and without it skin cells are struggling to multiply, resulting in skin fragility. This brings us a step closer to finding a cure for Kindler syndrome. The study, led by Professor Valerie Brunton, will be published in the Journal of Molecular Cell Biology.