The gene behind an unusual form of Cushing’s Syndrome


The molecular causes of a particular type of food-dependent Cushing’s Syndrome, a rare disease of the adrenal glands, are finally revealed.

In their study published in The Lancet Diabetes & Endocrinology, Dr.Isabelle Bourdeau and Dr.Peter Kamenicky identify in the gene KDM1A the mutations responsible for the development of this unusual form of the disease.

The scientists also show, for the first time, that the disease is genetically transmitted.

Bourdeau is a researcher and a Universite de Montreal medical professor practising at the CHUM Research Centre (CRCHUM), while Kamenicky works at the Hopital de Bicetre, part of the Assistance publique-hopitaux de Paris network in France.

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

«When the tissues of the human body are exposed to this excess of cortisol, the effects for those with the disease are serious: weight gain, high blood pressure, depression, osteoporosis, and heart complications, for example,» said Bourdeau, co-lead author of the study with Dr. Fanny Chasseloup, a colleague from the French team.


Story Source:
Materials provided by University of Montreal Hospital Research Centre (CRCHUM). Note: Content may be edited for style and length.


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