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hrp0098p2-128 | Fat, Metabolism and Obesity | ESPE2024

Identification and Functional Validation of Rare Missense Variants in PLXNA1 as a Candidate Gene for Severe Early-onset Obesity

Al-Barazenji Tara , Hammad Ayat , Mohammed Idris , Hussain Khalid , Al-Shafai Mashael

Background: Monogenic obesity (MO) is a rare form of obesity caused by mutations in a single gene, and characterized by being severe and with early onset. The leptin-melanocortin pathway is the main pathway controlling satiety and food intake. Genetic variants in this pathway have been implicated in MO with many being identified in consanguineous populations. Another group of neuronal proteins important in the development of neuronal circuits linked to energy ...

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hrp0098rfc6.4 | Fat, Metabolism and Obesity 1 | ESPE2024

Investigation of GNAS Variations as Causes of Monogenic Obesity in Qatar: An Integrative Approach Utilizing In Silico, In Vivo, and In Vitro Studies

Abbas Alaa , Hammad Ayat , Hussain Khalid , Al-Shafai Mashael , Gohlke Bettina , Lanzinger Stefanie , Boettcher Claudia , Gemulla Gita , Thiele-Schmitz Susanne , Dunstheimer Desiree , van den Boom Louise , Joachim Woelfle , Reinhard Holl

Background: GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is an imprinted gene that encodes the alpha subunit of the stimulatory G protein (Gsa), which mediates the signaling of various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, leading to Gsa deficiency, are associated with different subtypes of pseudohypoparathyroidism, which may include severe, early-onset obesity ...

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ESPE Abstracts

Identification and Functional Validation of Rare Missense Variants in PLXNA1 as a Candidate Gene for Severe Early-onset Obesity

Investigation of GNAS Variations as Causes of Monogenic Obesity in Qatar: An Integrative Approach Utilizing In Silico, In Vivo, and In Vitro Studies

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