Cardiac phenotype and tissue sodium content in adolescents w
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Pro-opiomelanocortin (POMC) and the melanocortin-4 receptor (MC4R) play a pivotal role in the leptin-melanocortin pathway. Mutations in these genes lead to monogenic types of obesity due to severe hyperphagia. In addition to dietary-induced obesity, a cardiac phenotype without hypertrophy has been identified in MC4R knockout mice.

Researchers aimed to characterize cardiac morphology and function as well as tissue Na + content in humans with mutations in POMC and MC4R genes.

A cohort of 42 patients (5 patients with bi-allelic POMC mutations, 6 heterozygous MC4R mutation carriers, 19 obese controls without known monogenic cause and 12 normal-weight controls) underwent cardiac magnetic resonance (CMR) imaging and 23Na-MRI.

Results:
-- Monogenic obese patients with POMC or MC4R mutation respectively had a significantly lower left ventricular mass/body surface area (BSA) compared to non-monogenic obese patients.

-- Left ventricular end-diastolic volume/BSA was significantly lower in POMC- and MC4R-deficient patients than in non-monogenic obese patients.

-- Subcutaneous fat and skin Na + content was significantly higher in POMC- and MC4R-deficient patients compared to non-monogenic obese patients.

-- In these compartments, the water content was significantly higher in patients with POMC and MC4R mutation than in control-groups.

Conclusively, patients with POMC or MC4R mutations carriers had a lack of transition to hypertrophy, significantly lower cardiac muscle mass/BSA and stored more Na + within the subcutaneous fat tissue compared to non-monogenic obese patients. The results point towards the role of the melanocortin pathway for cardiac function, tissue Na + storage and the importance of including cardiologic assessments into the diagnostic work-up of these patients.

Source: https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/clinem/dgab368/6283725?redirectedFrom=fulltext
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