Sv: Cushings?
Googlade lite, iof om "människocursings" har inte hittat något riktigt bra än
"Question: Are there any theories on what causes Cushing's tumor's? Is it hereditary?
Answer: In most patients, a Cushing's tumor (pituitary or adrenal) is not hereditary. There is a rare form of hereditary pituitary tumors, which is part of the Multiple Endocrine Neoplasia Type 1 syndrome. In this circumstance, members of the affected family have an increased risk for developing tumors of the parathyroid gland (high blood calcium), a pituitary tumor and a pancreatic tumor. In 1 study of patients with pituitary tumors, only 4% had MEN Type 1.
The actual cause of pituitary tumor development is under intensive investigation in several laboratories throughout the country. It is thought that these benign tumors, including Cushing's, arise from a mutation or change in the gene DNA and as a result, there is growth of a benign pituitary tumor. The specific gene mutation in pituitary dependent Cushing's is not yet known. Similarly, the precise mutation in adrenal adenoma causing Cushing's is also not yet known."
http://www.csrf.net/dr_answers/ques...t_causes_cushings_tumors_is_it_hereditary.php
Men på ett annat ställe står det såhär
"Two Seville Doctors Discover The Gene That Causes The Hereditary Cushing's Syndrome
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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