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Science News A gene behind an unusual form of Cushing’s syndrome identified during the study


Washington [US], Oct. 17 (ANI): The gene responsible for developing a food-dependent form of Cushing’s syndrome, a rare disease that affects both adrenal glands, has been successfully identified 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 Kamnitzky identify in the KDM1A gene the mutations responsible for the development of this unusual form of the disease.

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

Bordeaux is a researcher and professor of medicine at the University of Montreal who trains at the CHUM Research Center (CRCHUM), while Kamenicki works at the Hopital de Bicetre, part of the Assistance publique-hopitaux de Paris network in France.

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Cushing’s syndrome is caused by an overproduction of cortisol, a steroid hormone, by two adrenal glands located above the kidneys.

“When human body tissues are exposed to this excess of cortisol, the effects on patients with the disease are severe: weight gain, high blood pressure, depression, osteoporosis and heart complications, for example,” said Bordeaux, lead author of Dr. Fanny Cheslop, a fellow French team member. .

This discovery comes almost 30 years after food-induced Cushing’s syndrome was first described in 1992 by a research group led by Dr. Andre Lacroix in CRCHUM and colleagues. Johan Tremblay and Pavel Hammett.

The form of the disease being studied by Bordeaux and colleagues is particularly caused due to the abnormal expression of the receptors of a hormone called GIP (insulin-dependent peptide) in both patients’ adrenal glands. This hormone is produced by the small intestine in response to food intake. For people with the disease, cortisol concentrations increase abnormally whenever they consume food.

The discovery of the genetic mechanism by the French and Quebec teams was made possible through the use of state-of-the-art genetic techniques on patients’ tissues, including those studied by Dr. Lacroix at CHUM.

Earlier diagnosis thanks to genetic analysis

“In general, rare diseases are usually not diagnosed under clinics,” said Bordeaux, the medical director of the multidisciplinary adrenal tumor team at CHUM.

“By identifying this new gene, we now have a way of diagnosing patients and their families earlier and thus offering more customized drugs. At CHUM, genetic analysis is already being offered in our genetic medicine division.”

In an extraordinary demonstration of scientific collaboration, Quebec and French teams were able to collect and study tissue samples available at local and international biological banks in Canada, France, Italy, Greece, Belgium and the Netherlands.

Blood tissue and adrenal gland samples from 17 patients — mostly women — diagnosed with GIP-dependent Cushing’s syndrome were genetically compared to those of 29 others with bilateral GIP-independent Cushing’s syndrome.

This was no small achievement, given the rarity of the disease in the general population. It allowed researchers to identify the genetic mutations of the KDM1A gene and determine that the disease is genetically transmitted.

Since 2009, the CHUM has been designated as the fourth adrenal tumor treatment center of the Quebec Cancer Program. (ANI)

(This is an unedited and automatically generated story from a synchronized news feed, the LatestLY team may not have changed or edited the body of the content)

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