Biologically Inactive Leptin and Early-Onset Extreme Obesity  

Oleh:

Wabitsch, Martin ; Funcke, Jan-Bernd ; Sterns, Richard H. ; Kuhnle-Krahl, Ursula ; Lahr, Georgia

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 372 no. 01 (Jan. 2015), page 48-54.
Topik: Leptin; Obesity

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Mutations in the gene encoding leptin (LEP) typically lead to an absence of circulating leptin and to extreme obesity. We describe a 2-year-old boy with early-onset extreme obesity due to a novel homozygous transversion (c.298G?T) in LEP, leading to a change from aspartic acid to tyrosine at amino acid position 100 (p.D100Y) and high immunoreactive levels of leptin. Overexpression studies confirmed that the mutant protein is secreted but neither binds to nor activates the leptin receptor. The mutant protein failed to reduce food intake and body weight in leptin-deficient ob/ob mice. Treatment of the patient with recombinant human leptin (metreleptin) rapidly normalized eating behavior and resulted in weight loss.

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