Scientists have identified a gene that is responsible for a number of different bone and connective tissue disorders that were previously thought to be from different families of diseases. The specific gene that has problems is the B3GALT6 gene. Some of the diseases that it can cause are Spondyloepimetaphyseal dysplasia with joint laxity, type I or SEMD-JL1, and Ehlers-Danlos syndrome progeroid type. SEMD-JL1 causes short stature and spinal problems beginning at birth, and worsening with age. The Ehlers-Danlos syndrome is a disorder that affects the connective tissue. More studies are needed to fully understand what these implications might mean for the future, but it is a step in the right direction.
Link: http://www.sciencedaily.com/releases/2013/05/130509133249.htm
N.O.S. Themes
1. Science is Collaborative- More than one scientist was researching this gene.
2. Science is Tentative- Science can change because they just recently learned what disorders this gene can cause.
3. Science is Based on Evidence- Scientists have gathered evidence to prove that mutations with this gene can cause certain disorders.
I think it’s fascinating that these diseases are linked, but for so long they’d been classified as something else. All of the diseases sound terrible, so I’m glad that some progress has been made, and I hope it continues to move forward.
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