I am also weak in Beh. & Genteics - drfuture

[ArchivalUser]

thanks for ur help but why?

[ArchivalUser]

drfuture - 04/06/12 10:39

VHL is a tumor suppressor gene
and VHL disease is AD so do we need to have only one mutation for the disease to appear phenotypically????


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#2636153
samideb12 - 04/06/12 10:45

Yes,I think so .VHL is AD disease and needs only "one hit"
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drfuture - 04/06/12 11:19

so this is a brake in the role of the two hit hypothesis???????

in FA they say it is a dominant tumor suppresor gene mutation

in wikipedia they say u need two hits

r u sure
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#2636179
samideb12 - 04/06/12 11:22

I heard that in Goljian audio
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#2636424
drfuture - 04/06/12 16:57

does any one hav another opinion?

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#2636683
psychmledr - 04/07/12 01:07

They are basically saying the same thing.

It takes 2 hits to turn a cell into a tumor cell, one hit on each allele. Family members who inherit the VHL gene are born with the first hit; later in life, the second allele may be hit as well, and that's when they begin to develop the disease.

Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in von Hippel-Lindau syndrome. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.

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#2636739
drfuture - 04/07/12 04:12

THANKS MAN U HAVE CLARIFIED MY POINT

[ArchivalUser]

GOOD MORNING THANKS FOR EVRY BODY SHARING HIS/HER KNOWLEDGE IN THIS THREAD I want to add some biochemestry discussion here too

[ArchivalUser]

FA 2010 p 112

Malonyl coA inhibits carnitine shuttle which is essential for transfer of Fatty acylcoA into the mitochondria, Where is this malonyl coA coming from and what is the clinical significance?

[ArchivalUser]

AcetylCoA ------- AcetylCoA carboxylase --->>> MalonylCoA

when we have enough AcetylCoA ( enough for FA synthesis, for TCA cycle, for Ketone body formation ) AcetylCoA give MalonylCoA which gives a signal to carnitine acyltransferase CARNITINE SHUTTLE to stop bringing FAs into mitochondria for degradation to form acetylCoA cuz we have enough acetyl CoA

[ArchivalUser]

patients with defects in : CARNITINE SHUTTLE AND OR ACYLCOA DEHASE will not be able to brake down FA and form AcetylCoA ---

AcetylCoA is an allsteric stimulator of pyruvate carboxylase ( an imp. step in gluconeogensesis) so those patients gonna have hypoglycemia

with no ketone bodies cuz acetyl coa is also needed for ketone body formation

[ArchivalUser]

cytoplasm?

[ArchivalUser]

plz ignore this, just a mistake

[ArchivalUser]

@drfuture
i wasn't aware of these "hit hypothesis" till today.... god bless and thank you so much!!!!
thanks to samideb & psychmledr as well for their inputs !!! thanks once again

[ArchivalUser]

U r welcome zen786 and any body who wants to share and achieve a nice score by mastering those 3 subjects as I said from feed back I have noticed that those 3 subjects are the ones who stops us from getting the score we need. I know some people may say ohh right this way many people will get high score and u are dec. ur chances of residency,,, well I dont care. all i know is that we are in a boat that if it reaches the shore we will reach together and if it sinks we will sink together loool