We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity.
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Temel Bulgular & Veri:Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance.
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Sonuç & Katkı:We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.
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Bu Makaleye Atıf Yap
ÇETİNKAYA, S., GÜRAN, T., KURNAZ, E., KESKİN, M., SAĞSAK, E., ERDEVE, Ş. S., SUNTHARALİNGHAM, J. P., BUONOCORE, F., ACHERMANN, J. C., AYCAN, Z. (2018). A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 10 - Sayı: 1, 68–73. https://ajindex.com/articles/201731
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