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Telegraph newspaper article on potential Autism test

JillBohr

Senior Member
Messages
247
Location
Columbus, OH
I saw this in my local newspaper the West Australian (known locally as the 'Worst Australian') and thought it may be of interest:


http://au.news.yahoo.com/thewest/a/-/wa/7380434/new-gene-find-for-autism/

The world's biggest DNA scan for autism has uncovered new genetic changes linked to the condition which US researchers say could help doctors diagnose children earlier and deliver improved treatment.

The results, published in the journal Nature by the Autism Genome Project led by the Mount Sinai school of medicine in New York, could speed the development of the first genetic test for the condition, which affects up to one in 160 Australians.

A detailed study of almost 1000 children with autism and their parents found sections of the DNA were either missing or duplicated in people with the condition.


...

The results coincided yesterday with the release of a study by Melbourne researchers who found that special brain markers for autism could be seen in a scan known as an electroencephalogram.

Swinburne University said the scan recorded activity in the brain prompted by visual images and could become a new tool to diagnose autism.

This paper is complete rubbish. From the paper:

"When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4  10-4)."

Although my scientific knowledge is lacking, I DO know that it is not statistically significant unless is is 2.0 fold or higher.

This reminds me of when Time magazine printed one of the best discoveries of ?2009 and one of them was gene linked to autism because 65 percent of the ASD kids had this. Wow. That does sound like a great discovery, until you look at the paper and find that 63 percent of the general population also have that gene. Besides, there is no such thing as a genetic epidemic.
 

JillBohr

Senior Member
Messages
247
Location
Columbus, OH
I would be interested in finding out more about elevated levels of a chemical called dolichol ? there is an increase in dolichol levels in CFS... and dolichol can be picked up in a urine test.
Just therefore wondering if anyone has looked at the dysfunction in the isoprenoid pathway in CFS ? Any Thoughts

" A report on isoprenoid pathway dysfunction in CFS (Kurup & Kurup, 2003) showed that there was an increase in dolichol levels, carbohydrate residues of glycoproteins, glycolipids, total/individual glycosaminoglycans fractions and lysosomal enzymes in CFS."

CHRONIC FATIGUE SYNDROME PATIENTS HAVE SERUM N-GLYCOSYLATION CHANGES WHICH MAY REFLECT DOLICHOL DYSFUNCTION
http://www.abstracts2view.com/eular/view.php?nu=EULAR08L_THU0361

Very interesting Rosemary. Thank you for posting this.