Inheritance of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is an inherited condition that affects the connective tissues mostly skin, joints, and blood vessels. The most common form of EDS is hypermobility Ehlers-Danlos syndrome They're all associated with a variety of genetic causes passed on and inherited from parent to child. Depending on the type of EDS it could have come from one or both parents. There are more than 20 genes found to be the cause of EDS. Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several types of collagen. When the genes are disrupted the process of creating collagen is affected creating changes in the weakened bones connective tissue stretching which are the characteristic traits of EDS. Inheritance of EDS depends on the type of syndrome type you have. Some have autosomal dominant or autosomal recessive. In recessive two copies of the genes in the cells are altered and one parent is the carrier but does not show signs or symptoms of the disorder. There is a chance that one in four children can get the condition from both parents. In autosomal dominant one copy of the altered gene in each cell cause the disorder and is inherited from one affected parent. While there is also a chance that a kid can get the disorder without any family history of it this is called new de novo gene variants.

Sources

https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#inheritance

https://www.ehlers-danlos.com/genetics-and-inheritance/

 

The Genetics of Being Injury-Prone

Your genetics make up may play a role in whether or not you are more susceptible to injury on the playing field.  Stuart Kim, a professor of genetics at Stanford University, began his studies in genetics and athletes when athletes became interested in what kinds of injuries they were prone to.  These studies can be very helpful not only to professional athletes but to amateur athletes as well.  About two million adults go to the emergency room every year for sports-related injuries due to playing recreational sports.  It has been found that there are variations of genes that control the production of collagen (the main component of tendons and ligaments).  Collagen proteins also make up a large part of bones and bones.  In some people, lack of these proteins leave them more vulnerable to injury.  A specific collagen gene, COL1A1, has been found to be underrepresented in a group of recreational athletes who suffered traumatic ACL injuries in a study done in 2009 by South African researchers.  COL1A1, has been linked to other soft-tissue injuries like shoulder dislocations and Achilles-tendon ruptures.

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