staticnrg Posted June 16, 2006 Report Share Posted June 16, 2006 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' . About the ANDALUC?A INVESTIGA Andalusia's I+D+I public system includes over 18,000 researchers and more than 1,700 research groups. Together with Madrid and Catalu?a, Andalusia has a great potential, with 14% of the nation's total scientific output. This privileged position has been possible thanks both to the regional government's financial support to the I+D+I and the aid of the private sector. Last January 9, the Andalusian Programme for the Spreading of Scientific Knowledge created the news agency InnovaPress in Spanish, with the aim of providing prompt information about scientific developments in the region. The project follows the European Commission's guidelines for the creation of a major scientific news agency that will enhance the spread of such information, and will serve as a new tool for the EU's economic reforms set out in Lisbon, as debated in Brussels last December 2004. Now, from April 3rd, InnovaPress will also be available in English, in an attempt to spread scientific developments and results to mass media, researchers, and universities. The Andalusian Programme for the Spreading of Scientific Knowledge is sponsored by the Andalusian Ministry of Innovation, Science and Enterprise. This is a pioneering project in Europe, which has managed to gather research, higher education and knowledge-based industry, I.T.s, and entreprenurial, industrial and energy policies. With the interaction of all these agents in mind, the Andalusian Ministry of Innovation, Science and Enterprise intends to create a major social alliance that will enable an ?innovation explosion? in Andalusia as exclusive guarantee of progress and welfare development. In this vein, the Andalusian Regional Government has increased its investment in I+D+I by 37% with regard to the previous year, when investment was also increased by 32%. This shows the government's commitment to double investment in this area in the course of the present term of office. Some of the actions carried out by the regional government include a brand new Multi-annual Plan for University Infrastructure Investment for the period 2006-2010, with a total budget of 480 million Euros for the ten Andalusian public universities. With this new Plan, investment in university infrastructure and equipmentmte agents in mind,ry policiesm groups. is increased by 32% with regard to the previous five-year period. Also, within five years, the Plan will match all investment made in the last 12 years (1994-2005), which amounted to 504 million Euros. Also, a new system of incentives has been established for Research Groups and Excellence Projects, reaching a total of 87 million Euros, which means an increase of 79 million with regard to the previous official announcement made by the regional government before the new system was in force. In the new system, 12 million Euros have been allocated as incentives to the work of 1731 research groups, and 30 million more have made it possible to start 219 excellence projects dealing with Life Sciences, Food and Agriculture, Information Technologies, etc. Through InnovaPress, the Andalusian Programme for the Spreading of Scientific Knowledge will channel this new sustainable economic and social model, based on the creation of social welfare, respect for the environment and equal opportunities, within the major framework of the second modernisation of Andalusia. ANDALUC?A INVESTIGA Consejer?a de Innovaci?n, Ciencia y Empresa c/ Albert Einstein s/n http://www.andaluciainvestiga.com info@andaluciainvestiga.com Quote Link to comment Share on other sites More sharing options...
Over 2000 Posts Judy from Pgh Posted June 16, 2006 Over 2000 Posts Report Share Posted June 16, 2006 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 Quote Link to comment Share on other sites More sharing options...
staticnrg Posted June 16, 2006 Author Report Share Posted June 16, 2006 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 Quote Link to comment Share on other sites More sharing options...
Member of the 1000 Post Club KathiK Posted June 16, 2006 Member of the 1000 Post Club Report Share Posted June 16, 2006 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. Quote Link to comment Share on other sites More sharing options...
Member of the 1000 Post Club LisaMK Posted June 16, 2006 Member of the 1000 Post Club Report Share Posted June 16, 2006 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? Quote Link to comment Share on other sites More sharing options...
Over 2000 Posts Judy from Pgh Posted June 16, 2006 Over 2000 Posts Report Share Posted June 16, 2006 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 Quote Link to comment Share on other sites More sharing options...
staticnrg Posted June 17, 2006 Author Report Share Posted June 17, 2006 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 Quote Link to comment Share on other sites More sharing options...
gimpyratcat Posted June 17, 2006 Report Share Posted June 17, 2006 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 Quote Link to comment Share on other sites More sharing options...
Member of the 1000 Post Club kellysue Posted June 17, 2006 Member of the 1000 Post Club Report Share Posted June 17, 2006 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 Quote Link to comment Share on other sites More sharing options...
Over 2000 Posts Jo MacRaild Posted June 17, 2006 Over 2000 Posts Report Share Posted June 17, 2006 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. Quote Link to comment Share on other sites More sharing options...
Over 2000 Posts radtravler Posted June 17, 2006 Over 2000 Posts Report Share Posted June 17, 2006 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 Quote Link to comment Share on other sites More sharing options...
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