Cause of Ehlers- Danlos Syndrome

Connective tissues are responsible for many everyday functions and also for protection of internal structures.  It is the most abundant type of tissue found in the human body.  Connective tissue has a high rate of healing when the damage is considered small (Tortora). However, not all connective damage can be easily fixed. It can be damaged by genetic disorders, or diseases acquired later in life.  Some of these disorders may be harmful or even deadly such as Ehlers-Danlos syndrome. The real question at hand is, what causes diseases like Ehlers-Danlos syndrome?

In a study, researchers have found a gene that may answer this question about Ehlers-Danlos syndrome (RIKEN). Ehlers-Danlos syndrome affects many areas of connective tissues such as the blood vessels and joints.  It can cause blood vessels and intestines linings to explode or tear.  This syndrome is genetically passed down from generations (Mayo). Studies found that B3GALT6 mutations can cause this syndrome. B3GALT6 is a gene that helps encodes for enzymes.  The researchers came to the conclusion that a B3GALT6 is a requirement for the growth and development of connective tissues.  In addition, it was found that this affects ligaments, bones, and many more internal areas (RIKEN).

The research has not provided a cure for this harmful disorder of connective tissue.  However, this study has placed science in the right direction for cures.  This study will help individuals and his/her families be able to cope with the disorder.  On a brighter note, the science community can build upon this discovery to find the cure for Ehlers-Danlos syndrome.

 

Mayo Clinic Staff, . “Ehlers-Danlos Syndrome.” Mayo Clinic. 2013. Web. 12 Sept. 2013. <http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706>.

RIKEN. “Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue.” ScienceDaily, 9 May 2013. Web. 12 Sep. 2013.

Tortora G.J. and B. Derrickson. 2012. Principles of Anatomy and Physiology. 13th ed., John Wiley and Sons

 

 

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