The gene behind an unusual Cushing syndrome

The research by Dr.

Scientists also showed for the first time that this disease is transmitted through genes

Bourdeau is a researcher at the CHUM Research Center (CRCHUM) and a professor of medicine at the Université de Montréal, while Kamenicky works at H?pital de Bicêtre, which is part of the French aid publique-h?pitaux de Paris network

Cushing’s syndrome is caused by the two adrenal glands located above the kidneys producing too much cortisol, which is a steroid hormone

"When the body's tissues are exposed to this excess cortisol, those diseases have serious effects: weight gain, high blood pressure, depression, osteoporosis, and cardiac complications, for example," said Bourdeau, a joint study by Dr.

In 1992, Dr.

The form of the disease that Burdo and her colleagues are studying is caused by the abnormal expression of a hormone receptor called GIP (glucose-dependent insulin peptide), which is found in the adrenal glands of patients.

Research teams in France and Quebec have made it possible to discover genetic mechanisms through the latest cutting-edge genetic technology for patients including the patient tissues studied by Dr.

Early diagnosis benefits from genetic analysis

"In general, rare diseases are usually underdiagnosed in clinics," said Bourdeau, the medical director of CHUM's adrenal tumor multidisciplinary team

"By identifying this new gene, we now have a way to diagnose patients and their families earlier, thereby providing more personalized medicine

The research teams in Quebec and France were able to collect and study tissue specimens provided by local and international biobanks in Canada, France, Italy, Greece, Belgium, and the Netherlands.

The blood and adrenal tissue samples of 17 patients (mostly women) diagnosed with Gip-dependent Cushing's syndrome and the blood and adrenal tissue samples of 29 patients with GIP-independent bilateral adrenal Cushing's syndrome were genetically tested.

Given that this disease is very rare in the general population, this is a considerable achievement

Since 2009, CHUM has been designated as the fourth adrenal tumor care center of the Quebec Cancer Program

Journal Reference :

1. Fanny Chasseloup, Isabelle Bourdeau, Antoine Tabarin, Daniela Regazzo, Charles Dumontet, Nataly Ladurelle, Lucie Tosca, Larbi Amazit, Alexis Proust, Raphael Scharfmann, Tiphaine Mignot, Frédéric Fiore, Styliano, Jacute; Dimitra Vassi Young, Anne-Lise Lecoq, Vianney Deméocq, Sylvie Salenave, Hervé Lefebvre, Lucie Cloix, Philippe Emy, Rachel Dessailloud, Delphine Vezzosi, Carla Scaroni, Mattia Barbot, Wouter de Herder, Fran&ccedacu; Martinoitres; Martinoitres , Gilles Corbeil, Margot Dupeux, Benoit Lambert, Gérard Tachdjian, Anne Guiochon-Mantel, Isabelle Beau, Philippe Chanson, Say Viengchareun, André Lacroix, Jérômeligand, Peter Kamenický.