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Two Seville Doctors Discover The Gene That Causes The Hereditary Cushing's Syndrome

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Main Category: Genetics News

Article Date: 13 Jun 2006 - 0:00am (PDT)

 

Two Seville-based scientists of the Molecular Genetics Laboratory of Virgen Macarena Hospital have discovered the gene responsible for the hereditary Cushing's syndrome, a disease that is the result of an increase of the blood cortisol level, a hormone produced by the adrenal glands; patients suffer a serious of symptoms such as obesity, marks in their face, chest and shoulders, sometimes with an infection and an increased quantity of urine and excessive thirst (which may indicate the excess of glucose in the blood), among others.

 

According to the work carried out by doctors of the University Hospital, the fault is in the gene of the protein kinase A of chromosome 17. The mutation increases the quantity of cortisol in the blood anomalously, which shows the first symptoms when boys and girls reach puberty. ?Generally, they begin to put on weight without a justified cause, their blood pressure increases, they have menstruation disorders and violet stretch marks can appear in their breasts, hips and legs', said Alfonso Gentil, assistant lecturer of the Endocrinology Department of Virgen Macarena Hospital.

 

This research work describes the mutation found in 12 families in France, the USA and Spain, and connects for first time the Cushing's syndrome with a specific genetic anomaly. That's why this disease can be eventually diagnosed in molecular genetics laboratories on a prenatal basis or before it becomes clinically apparent, as it will be possible to identify what relatives of a patient are disease carriers.

 

This research was carried out at the Molecular Genetics Laboratory of Virgen Macarena Hospital, in Seville, and led by Dr. Miguel Lucas, from a study made in the Endocrinology and Nutrition Department by Dr. Gentil. It consisted on genetically assessing nine members of a family, where two of them -an 18-year-old girl and her aunt, in the 40's- were already diagnosed and surgically treated to eliminate the syndrome. The clinical trials consisted of extracting the DNA from the blood in order to check the segregation and link to gene of the protein kinase A and after that, determinate the sequence.

 

When the results were ready, the researchers of Virgen Macarena Hospital contacted Constantine Stratakis, a prestigious pathologist of Bethesda University, in Maryland, USA, who after learning of the Seville family case, put the Seville doctors in contact with the Cochin Institute of Paris in order to publish the work in the May edition of the international journal ?Journal Clinical Endocrinology and Metabolism' .

 

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Hey Robin,

 

I tried reading that,.........I really did.

 

Please tell me in English what it meant. Are you saying Cushings is Hereditary? I much better at "visual" explanations so if you can draw me a chart with little icons i would probably understand.

 

One more time.........Im sure I cant get Cliff Notes for your post, but could you interprete??

 

Thanks

 

Judy

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Hey Robin,

 

I tried reading that,.........I really did.

 

Please tell me in English what it meant. Are you saying Cushings is Hereditary? I much better at "visual" explanations so if you can draw me a chart with little icons i would probably understand.

 

One more time.........Im sure I cant get Cliff Notes for your post, but could you interprete??

 

Thanks

 

Judy

 

Ok, Judy..I'll try.

 

Not all Cushing's is hereditary. However, for those that do have the hereditary form, there is a gene marker, and they have found what it is. It is a mutation of the protein kinase A of chromosome 17. This doesn't mean a lot to us, but it can lead to a simple test to see if a person has this mutation and will develop Cushing's syndrome. If a family suspects they are carriers of this gene, they will be able to have a simple genetic test done to see. This will lead to earlier and better treatment for these folks. That's marvelous! It will also allow us to be tested to see if we have the gene or not. If so, we know our kids and grandkids will need to be tested.

 

That's it in a nutshell! HA!

Robin

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I wish I could tell these guys that it's nothing new and that I've suspected, even though I'm not a scientist or doctor, that Cushing's could be hereditary.

 

My mother has it, I have it, and there's a possibility that one of my sons has it. I'd like to have that gene tested in all 3 of us.

 

Thanks for the info. It's a great piece. I'm going to print it out and put it in my folder.

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I swear my birthmother's whole family has it. And I got mine at puberty just as they described it. I wonder what it would take to get my DNA checked?

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Robin,

 

Do you feel it is necessary for people like myself who have grandchildren, to let the parents know, and to be tested(me). Or is this something that the odds are against, that we should not be tested for the gene?

 

Are you going to be tested for the gene? I dont know of anyone in my family who has had problems of cushings.

 

Thanks Robin for the interpretation. I really do appreciate it...

 

Judy

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Robin,

 

Do you feel it is necessary for people like myself who have grandchildren, to let the parents know, and to be tested(me). Or is this something that the odds are against, that we should not be tested for the gene?

 

Are you going to be tested for the gene? I dont know of anyone in my family who has had problems of cushings.

 

Thanks Robin for the interpretation. I really do appreciate it...

 

Judy

 

Hi Judy. I don't think there is a test, yet. It will probably take a few years for them to start testing for it. I'll look around some more and see if anyone is doing it with doctor's order.

 

Robin

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this is exactly the news I had been hunting for.....I'm working on a similar article about a doctor in Maryland who is working on connections between joint disorders and pituatary like illness. Maybe there will be a breakthrough soon!

 

Cj

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Gpd, that is exciting news!!! I'm imagining a long line of Cushie's jumping up and down waiting to get tested. That is such hopeful news. Thanks for sharing it! Kelly

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:P Hi Robin,

You have been doing your homework haven't you !! Well done.. Real interesting that it kicks in with puberty, hormonal overdrive !!! Hopefully this will progress to give some people answers at long last International communication... Ahmen to that.

As this develops, they'll be looking for 'samples' to work on, so it might help people who suspect they have a family link before the full test is avaliable.

JO.

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Robin - I amost speechless - almost . I have been sure my mother and several of her relatives have it. That is a great finding. Thanks for the info.

Denise

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