Mild Phenotype

From PWS Notes
Jump to: navigation, search

Nature Study

Lolle et al, 2005, "Genome-wide non-mendelian inheritance of extra-genomic information in Arabidopis," Nature, 434:505-509.

Check this out:

The authors state that "...the possibility that the inheritance of non-genomic templates occurs in wild-type and hth plants, but the rate at which these templates are used to modify genomic sequences is elevated in hth as a result of indirect 'stress' put on the plant by the absence of the HTH gene product."

The News and Views article points out that HTH is a metabolic gene coding for a metabolic product. The absence of that product in an environment that pushes for the product would indeed by such a 'stressor.'

PWS is a metabolic deletion in many ways. Early intervention plus GH would indeed satisfy the above definition of 'stress.' You put the two together and indeed a most intriguing scenario...

Normal Individuals??

Now, I am not saying my friend has PWS, but...

Last night we had dinner with a close friend of ours (best man at our wedding). He has an undergraduate degree from Duke and a masters in education, and is a gifted high school teacher who has won several awards for his teaching. He was always weak as a child. He is completely out of touch with his body. He rarely experiences pain and doctors were shocked to discover that he had a dislocated shoulder and he had barely noticed it. He never feels hunger or fullness. He is obsessive compulsive but has harnessed it and therefore is not pathologically so. His father died young from a heart attack so he has to carefully watch his diet. He eats the same food every day on schedule. He exercises religiously. He is a bit slow to start something but when he fixes his eyes on a goal he always excels.

We were all commenting on how his cluster of "quirks" really resemble the PWS traits. While I fantasize about the idea of him being a highly functional person with PWS, I don't actually believe it is possible. Instead, I wonder if he doesn't have decreased expression of some of the same genes that are impacted by PWS.