PLT Test Blog

Child displaying elongated eyelids typical of Kabuki syndrome Source: Given by Parents of children pictured with purpose of representing children with kabuki on Wikipedia.   The syndrome is named after its resemblance to Japanese Kabuki makeup. As we have discovered in this blog, autism is just a condition where certain genes are over-expressed and other genes are under-expressed. Put like that makes it sound quite simple. Methylation of histones can either increase or decrease transcription of genes. The subject is highly complex, but we can keep things simple. The child in the photo above has Kabuki syndrome and is likely to exhibit features of autism.  In most cases this is the result of a lack of expression of the KMT2D/ MLL2 gene which encodes a protein called Histone-lysine N-methyltransferase .   Unfortunately, this is quite an important protein, because it promotes the “opening of chromatin”.   It adds a “trimethylation mark to H3K4”, just think of it as a pi...

Epigenopathies were introduced in an earlier post Today’s post takes another dip into the genetics of autism and currently existing therapies that could be re-purposed for autism.  We also see that many secrets remain beyond the 3% of your DNA that usually gets all the research attention.  The remaining 97% is not junk after all. There was an earlier post on this blog that introduced Epigenetics.  It is not such a complicated subject, just think about it as little tags on your DNA that turn genes on/off usually when they should not be, but there remains the possibility to use epigenetics for good.  In people with under-expression of an important gene you could “tag it” and then increase its expression. The exome is the part of your DNA that encodes the various proteins needed to build your body.  The remaining 97% of your DNA was once thought to be just junk; we saw in recent post that one part contains enhancers and silencers that control expression of the gen...