Patients affected by the uncommon form of Cushing syndrome, a rare disease that affects the adrenal glands, show an abnormal spike in cortisol levels after a meal. This rise can cause health problems such as weight gain, high blood pressure, depression, diabetes, osteoporosis and cardiac complications. Early diagnosis of Cushing syndrome leads to treatment that can lessen its harmful effects. But rare diseases—and especially their atypical forms—are generally under-diagnosed by clinicians.
But now, thanks to privileged access to blood and tissue samples from patients who have the uncommon form of the disease, researchers in Québec and France have proven that Cushing syndrome can be inherited. A team at the CHUM led by Dr. Isabelle Bourdeau working in collaboration with Dr. Peter Kamenický’s group at Hôpital Bicêtre in France and Martine Tétreault, researcher at the CRCHUM, established that the KDM1A gene was mutated in 100% of patients with this rare diet-related syndrome.
Their findings could lead to better care for people with the unusual form of Cushing syndrome, which was discovered by Dr. André Lacroix and his team at the CHUM more than 30 years ago. Because the disease is hereditary, genetic analyses of patients’ family members to determine whether the KDM1A gene has mutated could prove effective, since pinpointing a mutation will ensure those affected by the disease benefit from clinical monitoring and early intervention and avoid most of the complications associated with the syndrome.
Source :
Chasseloup, F., Bourdeau, I., Tabarin, A., Regazzo, D., Dumontet, C., Ladurelle, N., … Kamenický, P. (2021). Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome: a multicenter retrospective cohort study. The Lancet Diabetes & Endocrinology, 9(12), 813-824. https://doi.org/10.1016/S2213-8587(21)00236-9