The Interplay of UCP3 and PCSK1 Variants in Severe Obesity
Rattachement africain : us, it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Obesity is a heterogeneous and multifactorial disease with a strong genetic component. While polygenic obesity accounts for most common cases, rare monogenic variants contribute, particularly in severe, early-onset obesity. Among the lesser-studied candidates are UCP3 and PCSK1, genes involved in key metabolic pathways. RECENT FINDINGS: The UCP3 p.Val192Ile (c.574G > A) and PCSK1 p.Asn221Asp (c.661 A > G) variants have been independently associated with metabolic pathways, including fatty acid oxidation and hormone processing, as well as a modestly increased risk of obesity. Clinical and genetic characterization of two patients with severe early-onset obesity revealed the co-occurrence of these variants, which were associated with metabolic disturbances such as insulin resistance. PURPOSE OF THE REVIEW: This narrative review examined the functional and clinical significance of UCP3 and PCSK1 variants in severe obesity, presenting two case reports to illustrate their potential impact. Our findings support a potential model in which rare variants in distinct metabolic genes may interact synergistically to exacerbate disease severity. Further studies are needed to elucidate their combined functional effects and contributions to obesity pathogenesis.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- The Interplay of UCP3 and PCSK1 Variants in Severe Obesity
- Date Crossref
- 26/04/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Arizona Department of Medicine pays non établi dans la noticeUniversité ou école supérieure
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University of Naples Federico II Department of Public Health pays non établi dans la noticeUniversité ou école supérieure
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Pegaso University pays non établi dans la noticeUniversité ou école supérieure
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Dipartimento di Medicina Clinica e Chirurgia Unità di Endocrinologia pays non établi dans la noticeÉtablissement de santé
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University Federico II Cattedra Unesco "Educazione Alla Salute E Allo Sviluppo Sostenibile" pays non établi dans la noticeUniversité ou école supérieure
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Dipartimento di Psicologia e Scienze della Salute pays non établi dans la noticeInstitution
Department of Medicine — University of Arizona, Department of Public Health — University of Naples Federico II et Pegaso University, avec 3 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.