Thursday, June 13, 2013

PONDERING ABOUT SARCOMA

GENETIC SYNDROMES ASSOCIATED WITH SARCOMA
1.  LI FREUMANI    ASSOCIATED WITH    P 53
2.  RETINOBLASTOMA  ASSOCIATED WITH Rb 1 DELETION
3. NEUROFIBROMATOSIS TYPE 1, WELL EASY   NF-1 MUTATION
4. GARDNER  SNDROME ASSOCIATED WITH APC MUTATION
5. McCUNE ALBRIGHT SYNDROME ASSOCIATED WITH GNAS-1 MUTATION
6. BLOOM, ROTHMUND THOMPSON &WERNER ASSOCIATED WITH LOSS OF HELICASE FUNCTION

ALSO

WELL DIFFERENTIATED LIPOSARCOMA IS LINKED TO AMPLIFICATION OF  MDM2, MUTATION IN CDK4  (AMPLIFICATION MEANS A CLEAR DRIVER GENE, REPRESSING THIS MAY HAVE AN EFFECT AS A THERAPEUTIC INTERVENTION, TRY IT!)

DID YOU KNOW THAT IN OSTEOSARCOMA, METASTASIS TO LYMPH NODES IS SO RARE THE DISEASE IS STAGE IV WHEN THIS HAPPEN?  CONVERSELY, LUNG METS CAN BE REMOVED AND SOME PEOPLE BELIEVE IT IS NOT STAGE IV (THAT'S WHAT HAPPEN WHEN POLITICIANS GETS INVOLVED IN SCIENCE!)  BUT THIS IS TRUE BELIEVE ME, CHECK IT OUT!


WITH THE HELICASE!  YOU'RE TALKING THE HELIX OF DNA
THERE IS THE SCIENCE IN DEPTH !
"Many cellular processes, such as DNA replication, transcription, translation, recombination, DNA repair, and ribosome biogenesis involve the separation of nucleic acid strands that necessitates the use of helicases."WIKIPEDIA

WHEN SOMEONE IS TALIKNG HELICASE, DROP EVERYTHING AND LOOK AT HIM
HE IS TALKING DNA SCIENCE! AND THIS IS SERIOUS BECAUSE SO MANY GENES ARE INVOLVED, BRAIN MALFORMATION AND MALFUNCTION ARE INVOLVED, AND MORE IMPORTANTLY APOPTOSIS (THE CURE) IS NOT FAR AWAY!
" These functions assist in prevention of apoptosis, resulting in cortical size regulation, as well as a contribution to the survival of hippocampal and cortical structures, affecting memory and learning.[26] This helicase is located on the X chromosome (Xq13.1-q21.1)"  GENES ?  A SLEW INVOLVED!

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