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Showing posts from May, 2016

Sense, Missense or Nonsense - Interpreting Genetic Research in Autism (TCF4, TSC2 , Shank3 and Wnt)

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 gene can be…

More Melatonin!

Older people, those with autism, those with reflux, IBS/IBD and other GI problems generally have low levels of melatonin.  Poor sleep is but one consequence.

I have previously written about the potential for melatonin in autism and I do not just mean to improve sleeping disorders.  Melatonin does a great deal more than that.
Melatonin for Kids with Autism, and indeed their Parents
MitoE, MitoQ and Melatonin as possible therapies for Mitochondrial Dysfunction in Autism. Or Dimebon (Latrepirdine) from Russia?

Most substances I write about in this blog are either prescription drugs or quite expensive supplements.
Other than in a small number of countries like the United Kingdom, melatonin is widely available as a cheap supplement, but that does not mean it is not a drug.

In humans melatonin is produced in two different places and it appears in two orders of magnitude.  Traditionally melatonin is considered to be a hormone produced by the pineal gland in the brain, but far more melatonin is act…

Talents and Savants

Today�s post does not have much to do with science, just a little about genes.

Several years ago at school, a teacher asked me what Monty�s special skill is; as she understood autism, people always have one.

Recently, at the same mainstream school, a teacher was explaining to the assembled now older kids why it was that she had decided to establish a talent show.Did the kids really know what talent means?Her point was that everyone has a special ability, something that they are surprisingly good at. You just have to find it and develop it.The key is what you do with those talents, do they grow or not?

�Talent� came ultimately from Greek talanton, and referred originally to a unit of weight used by the Babylonians, Assyrians, Romans, and Greeks. The use of talent to mean �natural aptitude or skill� comes from the biblical parable of the talents in the Gospel of Matthew. In this story a master gives one, two, and ten talents of silver to each of three servants. Two of them use their talent…

Combatting Brain Calcification in Some Autism (and Bipolar and Schizophrenia) and Osteoprotegerin (OPG) as a potential biomarker, implicating Cav1.2

In today�s post there is more supposition than normal, but plenty of anecdotal evidence.  It follows on from the previous post that suggested calcification might be an issue in some types of autism.  As we know, many unrelated biological dysfunctions can lead to autism, but there do seem to be some commonly affected pathways.
This subject is definitely worthy of much more detailed study than my post, which is based on an initial review of the science.  Some leading researchers, like Persico and Courchesne are fully aware of the issue.  I am not sure who would undertake such a study.  There is no physician specialty dedicated solely to osteoporosis, so we are lacking experts.  The bone-vascular axis is worthy of more study, as much for heart disease as autism.
A variety of medical specialists treat people with osteoporosis, including internists, gynecologists, family physicians, endocrinologists, rheumatologists, physiatrists, orthopaedists, and geriatricians.  If you do not know what a…