Saethre–Chotzen syndrome? TWIST GENE
As we reviewed Epigenetic phenomena, one outstanding gene is the TWIST1,2 genes
This gene is important because abnormality at this location cause short stature. Like Thalidomid causing limbs we continue to insist that genes causing short stature are definitely important genes when mutated in cancers. This gene can be mutated in Thyroid cancer comfering an Anaplastic feature to the cancer according to researchers. It has been found also in Breast cancer (?triple negaltive).
The picture on the video describes a 28 year old with a nine months body shape, and Doctors in Brazil supposedly called it a case of Cretinism based on Hypothyroidism. Hypothyroidism only would not fully explain all that is seen here. And coincidentally, TWIST2 abnormality is described in Anaplastic Cancers of the Thyroid!
TWIT1,2 have epigenetic action since they (or their product) bind double stranded DNA, blocking expressing of genes in the targeted area. They have a role in the differentiation and mesodermal /endodermal transformation. The interesting fact is that short stature individual have appropriate length of blood vessel and function in appropriate, adapted to their size. Adaptations at the Wnt and Notch appear critical for this individual syndrome to exist. Certainly craniosynostosis and syndactyly attest to their involvement as membrane "termination or delineation" seems involved.
It would have been a great opportunity if we had access to these Doctors to discuss this case. It is obvious that these are great opportunities that nature give us for insight as long as all measures are taken to protect human dignity and rights.
The role of immunomodulator (ie the Thalidomide experience) brings to mind an opportunity of intervention in the Anaplastic Cancer of the Thyroid if TWIST2 is involved. I am sure that Histone Deacetylase and Hypomethylating agents will need further exploratory trials in conditions where TWIST amplification is found!
One should mention now that it appears increasingly that when the Wnt and Notch are involved, epigenetic controls or intervention would be the strongest to try as a target intervention.
Evidence of Notch involvement
|Transcription factor 3|
" PCAF has separate acetyltransferase and E3 ubiquitin ligase domains as well as a bromodomain for interaction with other proteins. PCAF also possesses sites for its own acetylation and ubiquitination."wikipidia
This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein.
The protein functions as histone acetyltransferase  that regulates transcription via chromatin remodeling, and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein.
This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and, thus, plays a role in the stimulation of hypoxia-induced genes such as VEGF.wikipedia
WITH THESE TWIST CONNECTIONS, QUESTIONS ARE RAISED
1. IS ANAPLASTIC CANCER OF THE THYROID ASSOCIATED WITH AN ADENOVIRUS?
2. DEFINITELY VEGF CONNECTION OPEN THE DOOR TO ROLE OF AVASTIN IN ANAPLASTIC CANCER
3.SHOULD COMBINATION OF THALIDOMID -AVASTIN BE TRIED IN THIS DISEASE
4.A CAN OF WORM IS OPENED!