PLT Test Blog

There have been yet more autism studies recently, highlighting neuroinflammation and the role of cells called microglia .  The result is this rather long post; but there is film to watch, if it gets heavy going. Glia derives from a Greek word for glue. The original thought was that the glial cells “glued” the neurons together. It turned out that glial cells do very much more and might be better thought of as “resident immune cells”.  They have other functions including synaptic pruning, which appears to have gone awry in autism.  They also form myelin, and when this goes wrong, big problems follow. Microglia are inside the blood brain barrier and one of their jobs is to swallow up any foreign bodies that should not be there, before they can do damage.  It appears that this process is mainly modulated via potassium channels.  The majority of research focuses on the calcium-activated K + channels, particularly KCNN4/KCa2 and 3.1, and ATP-sensitive K + channels (...

Crete, as seen from the International Space Station By ISS Expedition 28 crew (NASA Earth Observatory) [Public domain], via Wikimedia Commons In this blog there is a tab at the top called “Disorders leading to Autism” .  This includes a long list of, supposedly rare, known conditions that lead to the development of autism. In that list is Biotin deficiency and I even put the name of the gene that is thought to be dysfunctional.  The BTD gene  encodes an enzyme called Biotinidase , that in turn allows the body to use and recycle biotin . Biotin deficiency is a known cause of autism, but it seems that the assumption is made that the cause is  Biotinidase deficiency .  The usual test done is for  Biotinidase deficiency. In good hospitals they routinely test for many of these dysfunctions when a child is originally diagnosed with autism.  When I say good hospitals, I mean big US hospitals attached to a university.  In other countries such testing rar...