Washington [US], October 17 (ANI): The gene responsible for developing a diet-dependent form of Cushion Syndrome, a rare disease affecting the adrenal glands, has been successfully counteracted by a team of scientists in Montreal and Paris.
In their study published in The Lancet Diabetes and Endocrinology, Dr. Isabel Bordeaux and Dr. Peter Kaminsky, genes identified in KDM1A, are responsible for the development of this abnormal form of the disease.
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Scientists have also shown that, firstly, Yero, the disease is genetically transmitted.
Bordeaux is a researcher and professor at the Université de Montréal Medical Center, practicing at the CHUM Research Center (CRCHUM), while Kaminsky works at the Hopital de Bicetre, part of France’s Assistant Public-Hepatics de Paris network.
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Cushing’s syndrome is due to the production of cortisol, a steroid hormone, through the adrenal glands that are located above the neck.
“When the tissues of the human body are exposed to this excess of cortisol, the implications for those diseases are serious: weight gain, hypertension, depression, osteoporosis, and heart complications, for example,” Bordeaux said. The author of the study is the author of the study with Dr. Fannie Chaslop, a fellow of the French team.
The discovery comes 30 years after 30 years of food-induced Cushing’s syndrome was first described in 1992 by a research group led by Dr. Andrew Lacroix on CRCHUM and his colleague Dr. Johan Trumblay and Paul Hammett.
The disease is being studied by Bordeaux and his colleagues, especially in patients with renin-adrenal glands, due to abnormal expression of a hormone receptor called GIP (glucose-dependent insulinotropic peptide). This hormone is produced today in response to intestinal intestinal food consumption. For people with the disease, the number of cortisol increases abnormally every time they eat a gest.
The discovery of genetic mechanisms by the French and Quebec teams was made possible by the use of a modern genetic technique on the tissues of patients, which was researched by Dr. Lacroix on CH LUM. Bordeaux was assisted by CRCHUM researcher Martin Tetralt with the research project La Appeal during computer analysis.
Initial diagnosis thanks to genetic analysis
“In general, rare diseases are usually under-diagnosed in the clinic,” said Bordeaux, medical director of the Adult Tumors Medical Dispensary Team at CHUM.
“By unpacking this new gene, the only way we have it is to diagnose our patients and their families and thus offer personalized medicine.
In a remarkable demonstration of scientific collaboration, Quebec and French teams have succeeded in collecting and studying tissue samples available in Canada, France, Italy, Greece, Belgium, and the Netherlands, both locally and internationally.
Blood and adrenal gland tissue samples of 17 patients-most women with genetically diagnosed GIP-dependent cushing’s syndrome with 29 of those genes with their non-GIP-dependent bilateral adrenal cushing syndrome.
It was quite a success, given the prevalence of the disease in general. This allowed researchers to uncheck the genetic variation of the KDM1A gene and determine whether the disease is genetically transmitted.
Since 2009, CHUM has been designated as the Fourth Care Center for the Adult Tumors Quebec Cancer Program. (ANI)
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