Published: 13/06/2024 Tags: Medical & Scientific News

The Norris Lab hEDS Genetic Study Update

Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder whose genetic cause has been difficult to identify. Researchers at the Norris Lab conducted a study looking for genetic links to hEDS by sequencing the DNA of families and individuals with hEDS. They discovered a specific change (variant) in the KLK15 gene that was associated with hEDS in two families.

The KLK15 gene provides instructions for making a protein called kallikrein-15. To test what happens when this specific KLK15 genetic variant is present, the team created mice with an equivalent KLK15 variant. Six mice were studied and most had similar connective tissue problems to those seen in hEDS patients, such as weaker tendons and heart valve issues. It suggests that this KLK15 variant could play a role in causing hEDS in some people.

A further analysis of 197 hEDS patients also showed that 65 (one third) had at least one kallikrein gene variant from within the whole family of kallikrein genes. This raises the possibility that other kallikrein gene variants may also be involved, but further work needs to be done to explore this.

The findings highlight the importance of ongoing genetic research in understanding and diagnosing hEDS, which can lead to better health outcomes for patients. Further studies on kallikrein genes could reveal more about how they contribute to hEDS and related health issues, improving diagnosis and treatment.

The KLK genes are not available on EDS genetic testing panels. It is too soon to recommend this because further studies are needed to replicate the findings, including further research in the HEDGE study looking at 1,000 people with hEDS and studies of the other KLK genes. hEDS remains a clinical diagnosis at this time. Further information on genetics and inheritance can be found here.

Sign up to The Ehlers-Danlos Society mailing list