PLT Test Blog

  Repurposing what already exists – cheap, safe, effective and sometimes colourful Today’s post is nice and simple. Yet another sub-type of autism is shown in a clinical trial to respond to the cheap drug bumetanide, this time it is children diagnosed with TSC ( tuberous sclerosis complex); TSC is a leading genetic cause of autism often used in research. In France researchers repurposed Folinoral, a lower dose equivalent of Dr Frye’s, and our reader Roger’s, Leucovorin to treat autism with a positive result.  Folinoral is Calcium Folinate, but the dose was just 5mg twice a day, much less than the dose used in the US research. The potential off-label uses for Verapamil, the old calcium channel blocker helpful in some autism, continue to grow. Original purpose:   Lower blood pressure by blocking L-type calcium channels Alternative uses: ·         Treating bipolar disorder ·         Treating cluster h...

Today’s post is in response to a request from a parent interested in a very rare genetic condition involving the SMC3 ( Structural Maintenance of Chromosomes protein 3) gene , it is  cohesinopathy related to  Cornelia de Lange syndrome , but really better considered a distinct condition.  A cohesinopathy is a condition affecting the cohesin complex.  This subject does get very complicated and requires a biology lesson. Mitosis Mitosis is the process where one cell produces an identical copy of itself and one becomes two. In the figure below consider the red chromosome; it has to become two red chromosomes and just before this occurs, you have two identical “chromatids” that are joined together at the “centromere”, like an “H” shape. The chromatids later separate and become two identical red chromosomes in two identical cells.  In each cell there are two copies (here shown red and blue) of 22 chromosomes.   In addition is the problematic X chromosome,...