One in every 20,000 people will experience a painful condition known as Ehlers-Danlos syndrome or EDS. Although this condition is somewhat rare, there are 15 different types and no cure. The best option for patients with EDS is treatments to manage their symptoms. Next generation sequencing (NGS) may help pinpoint the new mutations in EDS.
What is EDS?
EDS is a genetic condition that affects connective tissue such as skin, joints, and blood vessel walls. Those with EDS tend to have overly flexible joints and fragile skin. The elastic fragile skin often makes wound care difficult.
A certain form of EDS can also affect the walls of blood vessels, causing ruptures. Vascular EDS can weaken the aorta, as well, and lead to ruptures in the intestines and uterus.
EDS is an inherited condition, meaning it passes from parent to child. In its most common form, hypermobile EDS, the parent has a 50 percent chance of passing on the gene to their child. For this reason, genetic testing and monitoring are critical for anyone with EDS. A recent study found that next generation sequencing may help identify new gene mutations in this condition.
What is Next Generation Sequencing?
NGS is a one-of-a-kind technique that assists scientists in determining the sequence of genes in specific DNA and RNA. It is a tool that enables them to understand better illness formation, progression, and tailored treatment techniques.
The Recent EDS Study
The 2022 study published in Current Issues in Molecular Biology involved 59 patients of Polish origin. The researchers at Nicolaus Copernicus University in Poland used NGS to analyze patients with classical EDS (cEDS) symptoms such as hypermobile joints. They looked at 35 genes, including three associated with the condition.
The goal of the study was to help in the diagnosis of EDS and similar connective tissue disorders. NGS can play a significant role in diagnosing these patients.
The EDS Study Results
The study found critical mutations in 30 of the participants. The remaining 29 showed no genetic variants. NGS allowed them to reveal the specific mutations in essential genes, including:
Twenty of the 30 patients with gene mutations had them in the COL5A1 gene. Three had mutations in the COL1A1 gene, six in COL1A2, and one in COL5A2.
Seven patients with variants in the most prominent group were determined to be likely disease-causing and had not previously been detected. In the remaining 13 variants in that group, 12 were not likely to cause disease, and one mutation’s impact was unclear.
In the seven patients with mutations in the COL1A2 gene and one in the COL1A1, the relevance of the mutations was unclear. However, they also determined that two mutations in the COL1A1 gene were likely disease-causing. They were also not previously defined.
The benefits of using NGS in this study were two-fold. With it, researchers pinpointed some disease-causing mutations. They were also able to show which mutations were likely benign. That information can help carve out future diagnostic techniques for EDS.