Gene Behind Unusual Form of Cushing’s Syndrome Identified

A team of scientists in Montreal and Paris has succeeded in identifying the gene responsible for the development of a food-dependent form of Cushing’s Syndrome, a rare disease affecting both adrenal glands. In their study published on October 13, 2021 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 food-dependent form of the disease is genetically transmitted. The article is titled “Loss of KDM1A In GIP-Dependent Primary Bilateral Macronodular Adrenal Hyperplasia with Cushing’s Syndrome: A Multicenter Retrospective Cohort Study.” Dr. Bourdeau is a researcher and a Université de Montréal medical professor practicing at the CHUM Research Centre (CRCHUM), while Dr. Kamenicky works at the Hôpital de Bicêtre, part of the Assistance Publique-Hôpitaux de Paris network in France.

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