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Why are some people born with flexible joints? What is the genetic secret behind this?
Flexible joints are a natural trait that some people are born with, which not only gives them special athletic abilities but can also lead to health problems. Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders related to this flexibility. Symptoms of these conditions include joints that dislocate easily, skin that is highly extensible, skin fragility, and abnormal scarring. EDS is caused by specific genetic mutations, and scientists are constantly exploring the genetic secrets behind it.
“Flexible joints are not just an exercise option, they can also involve serious physical health risks.”
When we explore why some people are born with this condition, it is important to first understand EDS and its various subtypes. In 2017, EDS was divided into 13 subtypes based on specific diagnostic criteria. Some of these subtypes have genetic backgrounds and affect important proteins in connective tissue, such as collagen and aspartate. In addition, these subtypes also exhibit diverse symptoms due to different genetic mutations.
Take hyperflexible EDS (hEDS), for example. This type is characterized by excessive mobility of large and small joints, which can lead to frequent joint dislocations and contusions. To date, there is no genetic testing method to determine the genetic origin of hEDS. This leaves healthcare workers often relying on the patient's physical characteristics and family history to make a diagnosis.
“People with hyperflexible EDS often suffer from a variety of health problems related to the disease, and understanding its genetic basis is critical.”
Genes and super-flexible EDS
While genetic variations in the other 12 EDS subtypes can be confirmed through genetic testing, there is no definite genetic cause for hEDS. Recently, the Ehlers-Danlos Society launched the Hyperflexible EDS Genetic Evaluation (HEDGE) study, an ongoing study designed to screen the genomes of diagnosed individuals for possible common mutations. More than a thousand patients have participated in this study, and scientists hope to use these data to find the gene for hEDS.
According to the latest research from the Medical University of South Carolina, scientists used CRISPR gene editing technology in mouse models to discover a "highly potential candidate gene." This discovery not only helps understand the genetic and cardiac complications of hEDS, but may also open new avenues for treatments related to aortic and mitral valve disease.
"The discovery of this candidate gene provides a new perspective for us to understand the genetic mechanism behind EDA."
Different types of Ehlers-Danlos syndrome
Not only are there many types of EDS, but so are their symptoms and severity. From the fragility of your skin to the health of your blood vessels, the effects of these conditions are felt throughout your body. Among them, vascular EDS (vEDS) can cause fragile blood vessels and organs to rupture, posing a threat to patients' lives. Muscle-articular EDS (mEDS), on the other hand, is known for lack of muscle tone, which gradually improves with age. These differences in presentation also complicate medical diagnosis.
In early childhood, symptoms of EDS may be misdiagnosed as other illnesses, such as depression or chronic fatigue syndrome, which adds to the challenges patients face. Even so, early diagnosis and appropriate supportive care, such as physical therapy and pain management, can significantly improve a patient's quality of life.
“Understanding the differences between various EDS subtypes can help doctors tailor treatment plans more accurately.”
Future research directions
With the deepening of research on the EDS gene, scientists have become increasingly aware of its genetic roots. Not only is this critical for the treatment and management of these conditions, it will also help improve the understanding of other connective tissue diseases. Future research may focus on how gene-environment interactions affect patients' symptoms and further explore new avenues for treatment.
Currently, knowledge about EDS still needs to be enhanced, which is a challenge not only for the medical community, but also for patients and their families. Through the collection of clinical data and the development of genomics, more accurate diagnosis and treatment methods are expected to be found in the future. Faced with these challenges, can we also rethink the genetic mysteries of joint flexibility?
