The gene behind an unusual form of Cushing’s Syndrome

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A team of scientists in Montreal and Paris have succeeded in identifying the genes involved in the development of the food-dependent form of Cushing’s syndrome, a rare disease that affects both adrenal glands.

In their study published in Lancet Diabetes and Endocrinology, Dr. Isabelle Bourdeau and Dr. Peter Kamenicky identify mutations in the gene KDM1A that are responsible for the development of this abnormal morphology. disease..

Scientists have also shown for the first time that the disease is genetically transmitted.

Bourdeau is a researcher at the CHUM Research Center (CRCHUM) and a professor of medicine at the University of Montreal, and Kameničky works at Hôpital de Bicêtre, which is part of the Assistance Publique-Hôpitaux de Paris network in France.

Cushing’s syndrome is caused by overproduction of cortisol. Steroid hormone,With two people Adrenal glands It’s on the kidneys.

“When human tissues are exposed to this excess cortisol, the effects on sick people are serious: weight gain, High blood pressureFor example, depression, osteoporosis, heart complications, “says Bourdeaux, co-author with Dr. Fanny Chasseloop, a colleague of the French team.

This discovery occurs about 30 years after food-induced Cushing’s syndrome was first described in 1992 by a research group led by Dr. Andre Lacroix of CRCHUM and his colleague Dr. Andre Lacroix. Joanne Trenbray and Pavel Hammett.

The form of the disease being studied by Bourdeau and her colleagues is caused by the abnormal expression of a receptor for a hormone called GIP (glucose-dependent insulinotropic peptide), especially in the adrenal glands of both patients. This hormone is produced by the small intestine in response to food intake. People with this illness have abnormally high levels of cortisol each time they eat food.

The discovery of genetic mechanisms by the French and Quebec teams has been made possible by the use of recent state-of-the-art genetic technology in patient tissues, including those investigated by Dr. Lacroix of CHUM. Bourdeau was assisted by CRCHUM researcher Martine Tétreault during computer analysis related to the research project.

Early diagnosis by gene analysis

“In general, rare diseases are generally underdiagnosed in the clinic,” said Bourdeau, medical director of CHUM’s interdisciplinary team for adrenal tumors.

“By identifying this new gene, we are able to diagnose patients and their families early and provide more personalized medicine. At CHUM, gene analysis is already available in the gene therapy department. . ”

In a remarkable demonstration of scientific cooperation, the Quebec and French teams will be able to collect and study tissue specimens available at national and international biobanks in Canada, France, Italy, Greece, Belgium and the Netherlands. It’s done.

Blood and adrenal tissue samples from 17 patients (mainly women) diagnosed with GIP-dependent Cushing’s syndrome were genetically compared with 29 other patients with GIP-independent bilateral adrenal Cushing’s syndrome.

Given the rarity of the disease in the general public, this was a considerable achievement. This allowed researchers to identify mutations in the KDM1A gene and confirm that the disease is genetically transmitted.

Since 2009, CHUM has been designated as the Quebec Cancer Program’s Fourth Adrenal Tumor Medical Center.

New immunological and endocrine syndrome

For more information:
Fanny Chasseloup et al, Loss of KDM1A in GIP-dependent primary bilateral congenital adrenal hyperplasia with Cushing’s syndrome: multicenter, retrospective, cohort study, Lancet Diabetes and Endocrinology (2021). DOI: 10.1016 / S2213-8587 (21) 00236-9

Quote: Specific: The genes behind the abnormal form of Cushing’s syndrome (October 14, 2021) are from in 2021. Obtained on October 14th

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