TUBA4A

Transcription

our research was focused on trying to find a new gene which uh... is causative for familial a less to do this what we have is actually two families that had a less within its me too two members from this family and actually sequenced uh... all of the genes in the event energy on for these two families once we had that what we start to do is look for different changes that occurred in the d_n_a_ among these people that we sequenced and what was very interesting is when we start to look at these we found one change which was in common between these two families which caused a mutation in gene this gene is called cause profil in one and that one of the functions of this gene is actually in uh... in the function of the cytoskeleton in the cisco which is actually the the the skeleton for the cell and what this protection does is too uh... extended the the set of skelton in different regions so uh... the uh... exxon scan that go in different directions they can expand and uh... and so our idea here was basically if we had a defect in this protein maybe it's altering how acts on scan actually grow so one of things that we actually did next is to actually see efficient but this mutant protein into cells into lax on saturday actually affect how the sax i was actually rural uh... and when we did that we have she found that by having this meeting mean protein in their and actually restricted the amount of growth that we actually saw as compared to the normal profil in protein uh... the next thing that we actually did was also to look to see if this protein actually uh... created aggregates the cell uh... agri answer a commoner uh... hallmark feature of alive nerds general diseases including a less parkinson's and alzheimer's and what was very interesting to us is when we did put the mutant protein in their actually formed these aggregates or clumps as we call them within the cell itself yet if we put in normal version of this protein in their it did not form aggregates and as a result this kansas a lot more information on what is actually going wrong but this protein