PLT Test Blog

Some clever autism researchers pin their hopes on genetics, while some equally clever ones are not convinced. One big problem is that genetic testing is still not very rigorous, it is fine if you know what you are looking for, like a specific single gene defect, but if it is a case of find any possible defect in any of the 700+ autism genes it can be hopeless. Most of the single gene types of autism can be diagnosed based on known physical differences and then that specific gene can be analyzed to confirm the diagnosis. Today’s post includes some recent examples from the research, and they highlight what is often lacking - some common sense. There are numerous known single gene conditions that lead to a cascade of dysfunctions that can result in behaviors people associate with autism.  However in most of these single gene conditions, like Fragile X or Pitt-Hopkins, there is a wide spectrum, from mildly affected to severely affected. There are various different ways in which a gen...

  Not cheap at about $1,000 for just 140mg Life extension may come as a surprise, but it is interesting because it is well studied and, in mice at least, easy to measure.  Most research into mTOR relates to cancer, but this is a very complex condition. With various feedback loops it means that sometimes the actual effect is the opposite of what was predicted.  For example, a substance that can help prevent cancer can actually become harmful later and promote its growth. Direct inhibition of mTOR with Everolimus and similar drugs (variants/analogs of Rapamycin , all called Rapalogs) has not been as successful as hoped in cancer research.  Trials of direct inhibition of mTOR will shortly start in one rare single gene type of autism ( TSC ).  The drugs are so expensive that many providers do not want to pay for them. As you will see mTOR is just one process in a cloud of interrelated processes.   Almost everything has a role/effect:- growth factors, cytokines,...