PLT Test Blog

Today’s post is only marginally related to autism, but does again show how some common food products have potential medical benefits. Where I currently live people have been using apple cider vinegar (ACV) as a home remedy for generations. It is the apple part, rather than the vinegar part that is most interesting. I think they should continue with this home remedy, just be careful not to dissolve the enamel on their teeth.  Rather surprisingly we can link ACV to improving Bumetanide effectiveness in autism and the chemoprotective effect of statins. I have read so much research about statins, I do take Atorvastatin myself. The only downside is that research shows it does increase fasting glucose levels by about 0.4 mmol/L, exactly why nobody is quite sure. If you want to further boost the chemoprotective power of statins it seems you may need a little help from something called Phloretin. Phloretin is a phenol that occurs in apples and the leaves of apple trees.   Apple cider...

There are several old posts in this blog about the potential to treat some autism using statins; this has nothing to do with their ability to lower cholesterol.  Statins are broadly anti-inflammatory but certain statins do some other particularly clever things. This led me to use Atorvastatin and Fragile-X researchers to use Lovastatin. Fragile X is suggested by an elongated face and big/protruding ears;  other features include MR/ID and autism. I was recently forwarded a Scottish study showing why Simvastatin does not work in Fragile X syndrome, but Lovastatin does. Fragile X mental retardation protein ( FMR1 ) acts to regulate translation of specific mRNAs through its binding of eIF4E (see chart below). In people with Fragile X, they lack the FMR1 protein. Boys are worse affected than girls, because females have a second X chromosome and so a "spare" copy of the gene.           Simvastatin does not reduce ERK1/2 or mTORC1 activation in the Fmr1-/y hi...

Today’s post is about cholesterol, statins and autism. There is a well-documented condition associated with autism called SLOS (Smith-Lemli-Opitz Syndrome). It is caused by mutations in the DHCR7 gene encoding the enzyme that catalyzes the final step in cholesterol biosynthesis. Toe syndactyly (webbed toes), one symptom of SLOS Reduced activity of the enzyme 7DHCR typically leads to low levels of cholesterol, but markedly increased levels of precursor 7DHC (and its isomer, 8DHC) in blood and tissues. Typical SLOS manifestations include intellectual disability, growth retardation, minor craniofacial anomalies, microcephaly and 2-3 toe syndactyly (webbed toes). SLOS is rare, but some cases do get missed because you can have a DHCR7 mutation and have normal levels of cholesterol and have normal cognitive function. Cholesterol and the blood brain barrier (BBB) You do have a lot of cholesterol in your brain, but it does not cross the blood brain barrier (BBB), it was made in the brain. ...

People keep telling me that my blog is too complicated; compared to the literature it really is not. If your child has a disabling condition you really should be willing to invest all the time needed to learn about it, rather than be a passive bystander. I think you can investigate even complex sounding genetic disorders without being an expert, which is what happens in today’s post.   Are there 20,000 types of jeans? As readers may recall, humans only have about 20,000 genes, far less than originally was thought. Each gene provides the instructions to make one thing, usually a protein. For the great majority of genes we have two copies, one from Mum and one from Dad. Mitochondrial genes all come from Mum. These genes are stored on chromosomes (like recipe books). For 22 of these recipe books you have two copies, so if one page got damaged at least you have an undamaged version from the other book. The 23rd pair of books is special because while females have two copies, males do ...