Some less than inspiring news: I am plodding through the government sponsored and maintained National Library of Medicine. It contains information about thousands of individual genes. In the early early days of autism Freudian analysts like Bruno Bettelheim asserted that the condition was due to “refrigerator” mothers who did not love their children. While BB did make some contributions, this theory was utter rubbish.
Eventually, some biochemists focused on aberrations in chromosome 15. Then it turned out there were also problems on chromosome 23. If you are a human female you have two X chromosomes for your 23rd pair. Males have XY for their 23rd. So for males if something is wrong (a deletion, a mutation or an addition) in the arm of the X that essentially has no counterpart in the Y serious trouble follows. Women usually only have the same trouble if both their X copies have the same flaw. That became known as Fragile X syndrome. Sometimes whole chains of genes are missing either on the X or on 15 – that’s almost always really bad.
Researchers at UC Davis found another autism hotspot on chromosome 22. On a good day a chromosome looks like a V with asymmetric arms. The shorter arm is known as p and the longer one as q. I guess “L” and “S” were too confusing. Regions with each arm are numbered so what UCD has a special group for is problems in 22q11.2.
There are a few problems
1. comparatively few people get their DNA sequenced
2. sometimes people have known DNA problems but do not show symptoms
3. even if a person has a known problem and has symptoms so what? Then what can be done?
The coolest (I think) would be to say to a family
A. your child has a DNA configuration with a mutation of the EHMT1 gene on chromosome 9 in the q34.3 region [Kleefstra Syndrome – a real thing]
B. We think he or she should be able to learn Chen style Tai Chi Chuan at such and such a rate based on how other students did.
C. There’s a database (without names or addresses) that has info about learning rates and collateral events like diet, medications and so on. Maybe that information will be useful for you, your doctor and the child.
D. At the very least, you can use the daily scores to measure how effective changes to medications, diet and sleep are.
As astute readers have already guessed, the real headache comes when we try to say how close two people are genetically. The distance function for San Carlos to Concord is pretty well understood at this time. There are actually two – as the crow flies and by road. How similar the DNA of two people is in terms of how they might be able to learn tai chi chuan or anything else – that’s a lot tougher.
So far, I am rolling toward more than 100 genes that are involved in various types of autism. There is at least one autism gene on ALL 23 chromosomes. Some syndromes involve multiple chromosomes. Not the results I was hoping for.
Right now, the news from France sounds very dark.
