Article
Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
International journal of molecular sciences - 15 Nov 2023
Mohammed Idris, Selvaraj Senthil, Ahmed Wesam S, Al-Barazenji Tara, Hammad Ayat S, Dauleh Hajar, Saraiva Luis R, Al-Shafai Mashael, Hussain Khalid
Abstract excerpt
The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in leptin-melanocortin signaling, and heterozygous variants in this gene are the most common cause of MO. A targeted gene panel consisting of 52 obesity-related genes was used to screen for...
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