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Do you know how the mysterious gene mutation in Ehlers–Danlos syndrome affects human connective tissue?
Ehlers–Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutations in at least 13 genes that affect multiple systems of the body. Symptoms of these disorders may be noticed at birth or in early childhood and may lead to a variety of complications, including joint dislocations, scoliosis, chronic pain, and early arthritis. Most strikingly, although 19 genes have been associated with EDS, the specific genetic variants responsible for hyperflexible Ehlers–Danlos syndrome (hEDS) remain unknown, making the syndrome shrouded in mystery.
"Current diagnosis usually relies on the presentation of the condition, confirmed by genetic testing or skin biopsy."
The classification of EDS was updated in 2017 and divided into multiple subtypes based on specific diagnostic criteria. The specific manifestations of each subtype are diverse, making diagnosis complicated. For example, ultraflexible EDS is characterized by hypermobility of large and small joints, and the skin of patients with this condition is often smooth and bruises easily. Such patients often face chronic muscle or bone pain and other complications, such as increased risks during pregnancy, including premature birth and low blood pressure caused by anesthesia.
"The exact genetic mutation responsible for hyperflexible Ehlers–Danlos syndrome has not yet been identified, forcing researchers to rely on the patient's physical features to make a diagnosis."
These gene variants often result in defects in the structure or processing of connective tissue proteins such as collagen or myoglucin. In many cases, these defects arise spontaneously or are inherited in an autosomal dominant or recessive manner. Especially in hEDS, the relevant gene mutations remain a mystery. As research deepens, some emerging research projects are trying to find potential hEDS genes, such as the Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study that began in 2018 and aims to screen the genomes of 1,000 hEDS patients.
The Norris Lab at the University of South Carolina School of Medicine has been studying mouse models using CRISPR Cas-9 gene editing technology and has identified a "very promising candidate gene." The findings raise concerns, particularly regarding cardiovascular complications, which occur in many EDS subtypes. These genetic mutations that may affect heart valves are not only related to the genes themselves, but are also closely related to the development and structure of the heart.
"In hEDS, a mutation may lead to reduced collagen production, which could affect the normal function of several organs."
Currently, treatment for EDS patients is still mainly supportive therapy, including physical therapy and braces to help strengthen muscles and support joints. With medication, patients can reduce pain and complications caused by weak blood vessels. However, all types of EDS have the potential to reduce a patient's life expectancy, particularly those affecting the blood vessels.
Although a number of subtypes have been studied and classified, there are still many unknowns about the causes of EDS and how it affects each patient. As for the ultra-flexible EDS, the potential exploration of its gene mutation is a topic that needs to be addressed by the sports development and medical community. Faced with such diverse and complex diseases, can researchers uncover the mystery of this mysterious gene and find effective treatment options?
